Author: "Marey, Isabelle" - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Marey, Isabelle"' showing total 42 results

Start Over Author "Marey, Isabelle"

42 results on '"Marey, Isabelle"'

1. Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

Author: Fauroux, Brigitte, Sacco, Silvia, Couloigner, Vincent, Amaddeo, Alessandro, Ravel, Aimé, Prioux, Emmanuelle, Toulas, Jeanne, Cieuta-Walti, Cécile, Walti, Hervé, Luscan, Romain, Falquero, Ségolène, Clert, Manon, Caillaud, Marie-Anne, De Sanctis, Livio, Khirani, Sonia, Marey, Isabelle, and Mircher, Clotilde
Published: 2024
Full Text: View/download PDF

2. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth
Published: 2024
Full Text: View/download PDF

3. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Author: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, and Depienne, Christel
Subjects: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity
Abstract: PurposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.MethodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.ResultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.ConclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.
Published: 2020

4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author: Staf strategisch beleid, Genetica Klinische Genetica, Child Health, Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A.van, Kroes, Hester Y., Stumpel, Constance T.R.M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, de Vries, Bert B.A., Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth, Staf strategisch beleid, Genetica Klinische Genetica, Child Health, Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A.van, Kroes, Hester Y., Stumpel, Constance T.R.M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, de Vries, Bert B.A., Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth
Published: 2024

5. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS):new insights from the fetal perspective

Author: Cuinat, Silvestre, Quélin, Chloé, Effray, Claire, Dubourg, Christèle, Le Bouar, Gwenaelle, Cabaret-Dufour, Anne-Sophie, Loget, Philippe, Proisy, Maia, Sauvestre, Fanny, Sarreau, Mélie, Martin-Berenguer, Sophie, Beneteau, Claire, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Trimouille, Aurélien, Macé, Pierre, Sigaudy, Sabine, Glazunova, Olga, Torrents, Julia, Raymond, Laure, Saint-Frison, Marie-Hélène, Attié-Bitach, Tania, Lefebvre, Mathilde, Capri, Yline, Bourgon, Nicolas, Thauvin-Robinet, Christel, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Brehin, Anne-Claire, Goldenberg, Alice, Patrier-Sallebert, Sophie, Perani, Alexandre, Dauriat, Benjamin, Bourthoumieu, Sylvie, Yardin, Catherine, Marquet, Valentine, Barnique, Marion, Fiorenza-Gasq, Maryse, Marey, Isabelle, Tournadre, Danielle, Doumit, Raïa, Nugues, Frédérique, Barakat, Tahsin Stefan, Bustos, Francisco, Jaillard, Sylvie, Launay, Erika, Pasquier, Laurent, Odent, Sylvie, Cuinat, Silvestre, Quélin, Chloé, Effray, Claire, Dubourg, Christèle, Le Bouar, Gwenaelle, Cabaret-Dufour, Anne-Sophie, Loget, Philippe, Proisy, Maia, Sauvestre, Fanny, Sarreau, Mélie, Martin-Berenguer, Sophie, Beneteau, Claire, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Trimouille, Aurélien, Macé, Pierre, Sigaudy, Sabine, Glazunova, Olga, Torrents, Julia, Raymond, Laure, Saint-Frison, Marie-Hélène, Attié-Bitach, Tania, Lefebvre, Mathilde, Capri, Yline, Bourgon, Nicolas, Thauvin-Robinet, Christel, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Brehin, Anne-Claire, Goldenberg, Alice, Patrier-Sallebert, Sophie, Perani, Alexandre, Dauriat, Benjamin, Bourthoumieu, Sylvie, Yardin, Catherine, Marquet, Valentine, Barnique, Marion, Fiorenza-Gasq, Maryse, Marey, Isabelle, Tournadre, Danielle, Doumit, Raïa, Nugues, Frédérique, Barakat, Tahsin Stefan, Bustos, Francisco, Jaillard, Sylvie, Launay, Erika, Pasquier, Laurent, and Odent, Sylvie
Abstract: INTRODUCTION: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described.METHOD: After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases.RESULTS: We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in RLIM, outside of the two previously known mutational hotspots.CONCLUSION: Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.
Published: 2024

6. Growth charts in DYRK1A syndrome

Author: Lanvin, Pierre-Louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thévenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne-Marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, Vincent, Marie, Lanvin, Pierre-Louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thévenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne-Marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, and Vincent, Marie
Abstract: DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0-5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome.
Published: 2024

7. Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

Author: Marey Isabelle, Fressart Véronique, Rambaud Caroline, Fornes Paul, Martin Laurent, Grotto Sarah, Alembik Yves, Gorka Hervé, Millat Gilles, Gandjbakhch Estelle, Bordet Céline, Grandmaison Geoffroy Lorin de la, Richard Pascale, and Charron Philippe
Subjects: sudden death, cardiac death, cardiomyopathy, post-mortem, genetic testing, Medicine
Abstract: Post-mortem genetic analyses may help to elucidate the cause of cardiac death. The added value is however unclear when a cardiac disease is already suspected or affirmed. Our aim was to study the feasibility and medical impact of post-mortem genetic analyses in suspected cardiomyopathy. We studied 35 patients with cardiac death and suspected cardiomyopathy based on autopsy or clinical data. After targeted sequencing, we identified 15 causal variants in 15 patients (yield 43%) in sarcomeric (n = 8), desmosomal (n = 3), lamin A/C (n = 3) and transthyretin (n = 1) genes. The results had various impacts on families, i.e. allowed predictive genetic testing in relatives (15 families), planned early therapeutics based on the specific underlying gene (5 families), rectified the suspected cardiomyopathy subtype (2 families), assessed the genetic origin of cardiomyopathy that usually has an acquired cause (1 family), assessed the diagnosis in a patient with uncertain borderline cardiomyopathy (1 family), reassured the siblings because of a de novo mutation (2 families) and allowed prenatal testing (1 family). Our findings suggest that post-mortem molecular testing should be included in the strategy of family care after cardiac death and suspected cardiomyopathy, since genetic findings provide additional information useful for relatives, which are beyond conventional autopsy.
Published: 2020
Full Text: View/download PDF

8. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

Author: Mircher, Clotilde, Sacco, Silvia, Bouis, Charles, Gallard, Jennifer, Pichot, Aude, Le Galloudec, Eric, Cieuta, Cécile, Marey, Isabelle, Greiner-Mahler, Oliver, Dorison, Nathalie, Gambarini, Alicia, Stora, Samantha, Durand, Sophie, Polak, Michel, Baruchel, André, Schlumberger, Emilie, Dewailly, Jean, Azar-Kolakez, Ahlam, Guéant-Rodriguez, Rosa-Maria, Guéant, Jean-Louis, Borderie, Didier, Bonnefont-Rousselot, Dominique, Blondiaux, Elodie, Ravel, Aimé, and Sturtz, Franck G.
Published: 2020
Full Text: View/download PDF

9. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Author: Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H. J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, and Wainwright, Brandon J.
Published: 2021
Full Text: View/download PDF

10. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Author: Heide, Solveig, Keren, Boris, Billette de Villemeur, Thierry, Chantot-Bastaraud, Sandra, Depienne, Christel, Nava, Caroline, Mignot, Cyril, Jacquette, Aurélia, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, Whalen, Sandra, Lacombe, Didier, Naudion, Sophie, Rooryck, Caroline, Toutain, Annick, Caignec, Cédric Le, Haye, Damien, Olivier-Faivre, Laurence, Masurel-Paulet, Alice, Thauvin-Robinet, Christel, Lesne, Fabien, Faudet, Anne, Ville, Dorothée, des Portes, Vincent, Sanlaville, Damien, Siffroi, Jean-Pierre, Moutard, Marie-Laure, and Héron, Delphine
Published: 2017
Full Text: View/download PDF

11. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Author: Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, and Wieczorek, Dagmar
Published: 2018
Full Text: View/download PDF

12. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author: Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, and Bourgeron, Thomas
Published: 2019
Full Text: View/download PDF

13. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Author: Jacquin, Clémence, primary, Landais, Emilie, additional, Poirsier, Céline, additional, Afenjar, Alexandra, additional, Akhavi, Ahmad, additional, Bednarek, Nathalie, additional, Bénech, Caroline, additional, Bonnard, Adeline, additional, Bosquet, Damien, additional, Burglen, Lydie, additional, Callier, Patrick, additional, Chantot‐Bastaraud, Sandra, additional, Coubes, Christine, additional, Coutton, Charles, additional, Delobel, Bruno, additional, Descharmes, Margaux, additional, Dupont, Jean‐Michel, additional, Gatinois, Vincent, additional, Gruchy, Nicolas, additional, Guterman, Sarah, additional, Heddar, Abdelkader, additional, Herissant, Lucas, additional, Heron, Delphine, additional, Isidor, Bertrand, additional, Jaeger, Pauline, additional, Jouret, Guillaume, additional, Keren, Boris, additional, Kuentz, Paul, additional, Le Caignec, Cedric, additional, Levy, Jonathan, additional, Lopez, Nathalie, additional, Manssens, Zoe, additional, Martin‐Coignard, Dominique, additional, Marey, Isabelle, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Pebrel‐Richard, Céline, additional, Pinson, Lucile, additional, Puechberty, Jacques, additional, Redon, Sylvia, additional, Sanlaville, Damien, additional, Spodenkiewicz, Marta, additional, Tabet, Anne‐Claude, additional, Verloes, Alain, additional, Vieville, Gaelle, additional, Yardin, Catherine, additional, Vialard, François, additional, and Doco‐Fenzy, Martine, additional
Published: 2022
Full Text: View/download PDF

14. Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria—Case Report

Author: Knapke, Antje, Bourdat Michel, Guylhène, Marey, Isabelle, and Le Tanno, Pauline
Subjects: Pediatrics, Perinatology and Child Health
Abstract: Cystinuria is a recessively inherited genetic disease causing recurrent kidney stones with risk of kidney failure. The discovery of hyperechoic colonic content on an antenatal ultrasound is considered to be a pathognomic sign of cystinuria. Herein, we present a clinical case with antenatal diagnosis of cystinuria in an ultrasound finding, which eventually revealed a multisystem disease, characterized by the association of renal Fanconi syndrome, hyperinsulinemic hypoglycemia, and hepatic dysfunction. Genetic investigations evidenced the recurrent heterozygous missense HNF4A (p.Arg76Trp) variant. Our case report shows that antenatal hyperechoic colonic content can hide a complex proximal renal tubulopathy, and questions the genetic counseling provided to families in the antenatal period.
Published: 2022
Full Text: View/download PDF

15. Craniosynostosis: A rare complication of pycnodysostosis

Author: Osimani, Sara, Husson, Isabelle, Passemard, Sandrine, Elmaleh, Monique, Perrin, Laurence, Quelin, Chloé, Marey, Isabelle, Delalande, Olivier, Filocamo, Mirella, and Verloes, Alain
Published: 2010
Full Text: View/download PDF

16. Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis

Author: Sacco, Silvia, primary, Bouis, Charles, additional, Gallard, Jennifer, additional, Pichot, Aude, additional, Blondiaux, Elodie, additional, Marey, Isabelle, additional, Dorison, Nathalie, additional, Sturtz, Franck, additional, Cieuta‐Walti, Cecile, additional, Ravel, Aimé, additional, and Mircher, Clotilde, additional
Published: 2021
Full Text: View/download PDF

17. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Author: UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G, Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne-Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L, Mefford, Heather C, Myers, Candace T, Howell, Katherine B, Rodríguez-Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F, de Wit, Marie Claire Y, Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E, Kabashi, Edor, Nabbout, Rima, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G, Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne-Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L, Mefford, Heather C, Myers, Candace T, Howell, Katherine B, Rodríguez-Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F, de Wit, Marie Claire Y, Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E, Kabashi, Edor, and Nabbout, Rima
Abstract: OBJECTIVE: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. METHODS: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE). In addition, we reviewed published cases and provided the long-term outcome in patients older than 12 years from our series and from literature. RESULTS: Our series included 36 patients (21 males, median age = 10 years, range = 1.6 months-34 years). Twenty patients (56%) had DEE with infantile onset seizures (seizure onset = 10 months, range = 10 days-3.5 years), whereas 16 (33%) had DE with late onset epilepsy in 10 (seizure onset = 5 years, range = 18 months-25 years) and without epilepsy in six. Cognitive impairment was more severe in individuals with DEE compared to those with DE. Analysis of 73 individuals with KCNB1 pathogenic variants (36 from our series and 37 published individuals in nine reports) showed developmental delay in all with severe to profound intellectual disability in 67% (n = 41/61) and autistic features in 56% (n = 32/57). Long-term outcome in 22 individuals older than 12 years (14 in our series and eight published individuals) showed poor cognitive, psychiatric, and behavioral outcome. Epilepsy course was variable. Missense variants were associated with more frequent and more severe epilepsy compared to truncating variants. SIGNIFICANCE: Our study describes the phenotypic spectrum of KCNB1 encephalopathy, which varies from severe DEE to DE with or without epilepsy. Although cognitive impairment is worse in patients with DEE, long-term outcome is poor for most and missense variants are associated with more severe epilepsy outcome. Further understanding of disease mechani
Published: 2020

18. Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication

Author: Rambaud, Jérôme, Marey, Isabelle, Dupont, Céline, Perrin-Sabourin, Laurence, Capri, Yline, Tabet, Anne Claude, Benzacken, Brigitte, Verloes, Alain, Aboura, Azzedine, and Gérard, Marion
Published: 2012
Full Text: View/download PDF

19. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Author: Bar, Claire, primary, Kuchenbuch, Mathieu, additional, Barcia, Giulia, additional, Schneider, Amy, additional, Jennesson, Mélanie, additional, Le Guyader, Gwenaël, additional, Lesca, Gaetan, additional, Mignot, Cyril, additional, Montomoli, Martino, additional, Parrini, Elena, additional, Isnard, Hervé, additional, Rolland, Anne, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Dorison, Nathalie, additional, Sadleir, Lynette G., additional, Breuillard, Delphine, additional, Levy, Raphael, additional, Rio, Marlène, additional, Dupont, Sophie, additional, Negrin, Susanna, additional, Danieli, Alberto, additional, Scalais, Emmanuel, additional, De Saint Martin, Anne, additional, El Chehadeh, Salima, additional, Chelly, Jamel, additional, Poisson, Alice, additional, Lebre, Anne‐Sophie, additional, Nica, Anca, additional, Odent, Sylvie, additional, Sekhara, Tayeb, additional, Brankovic, Vesna, additional, Goldenberg, Alice, additional, Vrielynck, Pascal, additional, Lederer, Damien, additional, Maurey, Hélène, additional, Terrone, Gaetano, additional, Besmond, Claude, additional, Hubert, Laurence, additional, Berquin, Patrick, additional, Billette de Villemeur, Thierry, additional, Isidor, Bertrand, additional, Freeman, Jeremy L., additional, Mefford, Heather C., additional, Myers, Candace T., additional, Howell, Katherine B., additional, Rodríguez‐Sacristán Cascajo, Andrés, additional, Meyer, Pierre, additional, Genevieve, David, additional, Guët, Agnès, additional, Doummar, Diane, additional, Durigneux, Julien, additional, van Dooren, Marieke F., additional, de Wit, Marie Claire Y., additional, Gerard, Marion, additional, Marey, Isabelle, additional, Munnich, Arnold, additional, Guerrini, Renzo, additional, Scheffer, Ingrid E., additional, Kabashi, Edor, additional, and Nabbout, Rima, additional
Published: 2020
Full Text: View/download PDF

20. Le dépistage anténatal sur puces ADN (ACPA) lors des anomalies mineures de l’échographie fœtale affecte les représentations et l’état émotionnel maternel : une étude exploratoire

Author: Viaux Savelon, Sylvie, primary, Decherf, Margaux, additional, Bodeau, Nicolas, additional, Ville, Yves, additional, Marey, Isabelle, additional, Cohen, David, additional, and Dommergues, Marc, additional
Published: 2020
Full Text: View/download PDF

21. ZMYND11 ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Author: Yates, Thabo M., primary, Drucker, Morgan, additional, Barnicoat, Angela, additional, Low, Karen, additional, Gerkes, Erica H., additional, Fry, Andrew E., additional, Parker, Michael J., additional, O'Driscoll, Mary, additional, Charles, Perrine, additional, Cox, Helen, additional, Marey, Isabelle, additional, Keren, Boris, additional, Rinne, Tuula, additional, McEntagart, Meriel, additional, Ramachandran, Vijaya, additional, Drury, Suzanne, additional, Vansenne, Fleur, additional, Sival, Deborah A., additional, Herkert, Johanna C., additional, Callewaert, Bert, additional, Tan, Wen‐Hann, additional, and Balasubramanian, Meena, additional
Published: 2020
Full Text: View/download PDF

22. Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis.

Author: Sacco, Silvia, Bouis, Charles, Gallard, Jennifer, Pichot, Aude, Blondiaux, Elodie, Marey, Isabelle, Dorison, Nathalie, Sturtz, Franck, Cieuta‐Walti, Cecile, Ravel, Aimé, and Mircher, Clotilde
Abstract: Children with Down syndrome (DS) show delayed acquisition of cognitive and functional skills compared to typically developing children. The objective of this study was to accurately describe early development of infants and young children (children hereafter) with DS based on a large recent sample. We carried out repeated measure analysis of the global development quotient (GDQ) and developmental age using data from the Assessment of Systematic Treatment with Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children (ACTHYF) study (NCT01576705). Because there was no statistically significant difference in the primary endpoint between active treatment and placebo, data from all treatment groups were pooled for post‐hoc analysis. Data of 141 children with DS aged 6–18 months at inclusion were analyzed. Mean GDQ decreased over the study period, especially in the youngest age classes ([6–9] and [9–12] months), indicating that acquisition of skills occurred at a slower pace compared to typically developing children. Strongest deficits were observed for motor and hearing and language skills. Only GDQ at baseline correlated significantly with evolution of GDQ. Future studies should aim at elucidating the mechanisms underlying motor and language development. Early pharmacological interventions together with early childhood therapies might be necessary to improve the developmental trajectory of children with DS. [ABSTRACT FROM AUTHOR]
Published: 2022
Full Text: View/download PDF

23. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Author: Grangeon, Lou, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Budowski, Clara, Corbillé, Anne-Gaëlle, Antoine, Jean-Christophe, Clanet, Michel, Rovelet-Lecrux, Anne, Boland, Anne, Deleuze, Jean-François, Favrole, Pascal, Verny, Christophe, Krystkowiak, Pierre, Chamard, Ludivine, Moutton, Sébastien, Goizet, Cyril, Ferec, Claude, Timsit, Serge, Schaeffer, Stéphane, Derache, Nathalie, Defer, Gilles, Durif, Franck, Sellal, François, Rouaud, Olivier, Thauvin-Robinet, Christel, Cubizolle, Stéphanie, Sauvée, Mathilde, Leblanc, Amélie, Demas, Alexis, POISSON, Alice, Tournier-Lasserve, Elisabeth, Hervé, Dominique, Chabriat, Hugues, Grolez, Guillaume, Carrière, Nicolas, Defebvre, Luc, Lebouvier, Thibaud, Witjas, Tatiana, Azulay, Jean-Philippe, Fluchère, Frédérique, Didic, Mira, Nguyen, Karine, Charif, Mahmoud, Ayrignac, Xavier, Labauge, Pierre, Lionnet, Caroline, Marelli-Tosi, Cecilia, GAUD, Simon, Rouaud, Tiphaine, Laurens, Brice, Folgoas, Emmanuelle, Isidor, Bertrand, Chiesa, Jean, Pallix-Guyot, Maud, Gaillard, Nicolas, Olivier, Nadège, Jurici, Snejana, Marey, Isabelle, Charles, Perrine, Ewenczyck, Claire, Dürr, Alexandra, Hubsch, Cécile, Méneret, Aurélie, Vidailhet, Marie, Nadjar, Yann, Le Ber, Isabelle, Grabli, David, Roze, Emmanuel, Navarro, Vincent, Mecharles-Darrigol, Sylvie, Lagarde, Julien, Sarazin, Marie, Vérin, Marc, Lefaucheur, Romain, Maltête, David, Wallon, David, Martinaud, Olivier, Guyant-Maréchal, Lucie, Richard, Anne-claire, Guillin, Olivier, Yger, Marion, Anheim, Mathieu, Renaud, Mathilde, Tranchant, Christine, Rudolf, Gabrielle, Cretin, Benjamin, Mallaret, Martial, Pariente, Jérémie, Ory-Magne, Fabienne, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Fer à Moulin, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie, CHU Saint-Etienne-Hôpital Bellevue, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Biologie Neurovasculaire Intégrée (BNVI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Service de neurochirurgie générale et stéréotaxique fonctionnelle, Hôpital Roger Salengro-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Mémoire de Ressources et de Recherche - CMRR [Besançon] (CMRR), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie, Hôpital Gabriel Montpied, Hôpital pasteur [Colmar], Université Montpellier 1 (UM1)-Hôpital Guy de Chauliac-Centre Mémoire Ressources Recherche Languedoc - Roussillon, Centre Hospitalier Universitaire [Grenoble] (CHU), Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Genetique des Maladies Vasculaires, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gouvernance, Risque, Environnement, Développement (GRED), Université Paul-Valéry - Montpellier 3 (UM3)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de neurologie et pathologie du mouvement, Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires (U1171), INSERM-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Neuropathies du système nerveux entérique et pathologies digestives, implication des cellules gliales entériques, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie et de neuropsychologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Université de Lorraine (UL), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Bordeaux (UB), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Centre Hospitalier Régional d'Orléans (CHR), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Fédération des Maladies du Système Nerveux, Laboratoire de neurosciences cognitives et d'imagerie cérébrale (LENA), Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Efficience Déficience Motrice [Montpellier] (EDM), Université Montpellier 1 (UM1), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU), Service des Urgences Cérébro-Vasculaires [CHU Pitié-Salpêtrière]], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Strasbourg, Département de Neurologie, CHU Strasbourg-Hopital Civil, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et nanosciences d'Alsace, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA), Imagerie cérébrale et handicaps neurologiques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CIC Toulouse, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Aix-en-Provence], Centre Hospitalier du Pays d'Aix, Service de Neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Neurologie Vasculaire [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Différenciation et communication neuronale et neuroendocrine (DC2N), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), ANR-17-CE14-0008,CALCIPHOS,ROLE DE L'EXPORTATEUR DE PHOSPHATE DANS LA CALCIFICATION VASCULAIRE(2017), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Laboratoire de Neurosciences Fonctionnelles et Pathologies, Hôpital Roger Salengro-PRES Université Lille Nord de France-EA 4559/1046-Université de Lille, Droit et Santé, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), and Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
Subjects: 0301 basic medicine, Proband, Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Glycoside Hydrolases, [SDV]Life Sciences [q-bio], PDGFRB, medicine.disease_cause, Nervous System Malformations, MESH: phenotype, computed tomography, mutation, genes, pons, brain, autosomal recessive inheritance, cerebellar atrophy, calcification, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Mutation, Brain Diseases, PDGFB, business.industry, Brain, Calcinosis, Middle Aged, medicine.disease, Penetrance, 3. Good health, Pedigree, 030104 developmental biology, Phenotype, Cerebellar atrophy, Female, Neurology (clinical), Age of onset, business, Xenotropic and Polytropic Retrovirus Receptor, 030217 neurology & neurosurgery, Calcification
Abstract: International audience; Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or novel predicted damaging variant. We studied the clinical and radiological features of 16 patients of these 11 families and compared them to that of 102 autosomal dominant PFBC patients carrying a mutation in one of the four known autosomal dominant PFBC genes. We found that MYORG patients exhibited a high clinical penetrance with a median age of onset of 52 years (range: 21–62) with motor impairment at the forefront. In particular, dysarthria was the presenting sign in 11/16 patients. In contrast to patients with autosomal dominant PFBC, 12/15 (80%) symptomatic patients eventually presented at least four of the following five symptoms: dysarthria, cerebellar syndrome, gait disorder of any origin, akinetic-hypertonic syndrome and pyramidal signs. In addition to the most severe clinical pattern, MYORG patients exhibited the most severe pattern of calcifications as compared to the patients from the four autosomal dominant PFBC gene categories. Strikingly, 12/15 presented with brainstem calcifications in addition to extensive calcifications in other brain areas (lenticular nuclei, thalamus, cerebellar hemispheres, vermis, ±cortex). Among them, eight patients exhibited pontine calcifications, which were observed in none of the autosomal dominant PFBC patients and hence appeared to be highly specific. Finally, all patients exhibited cerebellar atrophy with diverse degrees of severity on CT scans. We confirmed the existence of cerebellar atrophy by performing MRI voxel-based morphometry analyses of MYORG patients with autosomal dominant PFBC mutation carriers as a comparison group. Of note, in three families, the father carried small pallido-dentate calcifications while carrying the mutation at the heterozygous state, suggesting a putative phenotypic expression in some heterozygous carriers. In conclusion, we confirm that MYORG is a novel major PFBC causative gene and that the phenotype associated with such mutations may be recognized based on pedigree, clinical and radiological features.
Published: 2019
Full Text: View/download PDF

24. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Author: Bar, Claire, primary, Barcia, Giulia, additional, Jennesson, Mélanie, additional, Le Guyader, Gwenaël, additional, Schneider, Amy, additional, Mignot, Cyril, additional, Lesca, Gaetan, additional, Breuillard, Delphine, additional, Montomoli, Martino, additional, Keren, Boris, additional, Doummar, Diane, additional, Billette de Villemeur, Thierry, additional, Afenjar, Alexandra, additional, Marey, Isabelle, additional, Gerard, Marion, additional, Isnard, Hervé, additional, Poisson, Alice, additional, Dupont, Sophie, additional, Berquin, Patrick, additional, Meyer, Pierre, additional, Genevieve, David, additional, De Saint Martin, Anne, additional, El Chehadeh, Salima, additional, Chelly, Jamel, additional, Guët, Agnès, additional, Scalais, Emmanuel, additional, Dorison, Nathalie, additional, Myers, Candace T., additional, Mefford, Heather C., additional, Howell, Katherine B., additional, Marini, Carla, additional, Freeman, Jeremy L., additional, Nica, Anca, additional, Terrone, Gaetano, additional, Sekhara, Tayeb, additional, Lebre, Anne‐Sophie, additional, Odent, Sylvie, additional, Sadleir, Lynette G., additional, Munnich, Arnold, additional, Guerrini, Renzo, additional, Scheffer, Ingrid E., additional, Kabashi, Edor, additional, and Nabbout, Rima, additional
Published: 2019
Full Text: View/download PDF

25. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Author: Bar, Claire, Barcia, Giulia, Jennesson, Mélanie, Le Guyader, Gwenaël, Schneider, Amy, Mignot, Cyril, Lesca, Gaetan, Breuillard, Delphine, Montomoli, Martino, Keren, Boris, Doummar, Diane, Billette de Villemeur, Thierry, Afenjar, Alexandra, Marey, Isabelle, Gerard, Marion, Isnard, Hervé, Poisson, Alice, Dupont, Sophie, Berquin, Patrick, and Meyer, Pierre
Abstract: Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early‐onset DEE. KCNB1 encodes the α subunit of the delayed rectifier voltage‐dependent potassium channel Kv2.1. We review the 37 previously reported patients carrying 29 distinct KCNB1 variants and significantly expand the mutational spectrum describing 18 novel variants from 27 unreported patients. Most variants occur de novo and mainly consist of missense variants located on the voltage sensor and the pore domain of Kv2.1. We also report the first inherited variant (p.Arg583*). KCNB1‐related encephalopathies encompass a wide spectrum of neurodevelopmental disorders with predominant language difficulties and behavioral impairment. Eighty‐five percent of patients developed epilepsies with variable syndromes and prognosis. Truncating variants in the C‐terminal domain are associated with a less‐severe epileptic phenotype. Overall, this report provides an up‐to‐date review of the mutational and clinical spectrum of KCNB1, strengthening its place as a causal gene in DEEs and emphasizing the need for further functional studies to unravel the underlying mechanisms. [ABSTRACT FROM AUTHOR]
Published: 2020
Full Text: View/download PDF

26. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Author: Ito, Yoko, primary, Carss, Keren J., additional, Duarte, Sofia T., additional, Hartley, Taila, additional, Keren, Boris, additional, Kurian, Manju A., additional, Marey, Isabelle, additional, Charles, Perinne, additional, Mendonça, Carla, additional, Nava, Caroline, additional, Pfundt, Rolph, additional, Sanchis-Juan, Alba, additional, van Bokhoven, Hans, additional, van Essen, Anthony, additional, van Ravenswaaij-Arts, Conny, additional, Boycott, Kym M., additional, Kernohan, Kristin D., additional, Dyack, Sarah, additional, Raymond, F. Lucy, additional, Aitman, Timothy, additional, Bennett, David, additional, Caulfield, Mark, additional, Chinnery, Patrick, additional, Gale, Daniel, additional, Koziell, Ania, additional, Kuijpers, Taco W., additional, Laffan, Michael A., additional, Maher, Eamonn, additional, Markus, Hugh S., additional, Morrell, Nicholas W., additional, Ouwehand, Willem H., additional, Perry, David J., additional, Roberts, Irene, additional, Smith, Kenneth G.C., additional, Thrasher, Adrian, additional, Watkins, Hugh, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Ashford, Sofie, additional, Bradley, John R., additional, Fletcher, Debra, additional, Hammerton, Tracey, additional, James, Roger, additional, Kingston, Nathalie, additional, Penkett, Christopher J., additional, Stirrups, Kathleen, additional, Veltman, Marijke, additional, Young, Tim, additional, Brown, Matthew, additional, Clements-Brod, Naomi, additional, Davis, John, additional, Dewhurst, Eleanor, additional, Dolling, Helen, additional, Erwood, Marie, additional, Frary, Amy, additional, Linger, Rachel, additional, Martin, Jennifer M., additional, Papadia, Sofia, additional, Rehnstrom, Karola, additional, Stark, Hannah, additional, Allsup, David, additional, Austin, Steve, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Bolton-Maggs, Paula, additional, Chalmers, Elizabeth, additional, Collins, Janine, additional, Collins, Peter, additional, Erber, Wendy N., additional, Everington, Tamara, additional, Favier, Remi, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Gattens, Michael, additional, Gebhart, Johanna, additional, Gomez, Keith, additional, Greene, Daniel, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Hart, Daniel, additional, Heemskerk, Johan W.M., additional, Henskens, Yvonne, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelly, Anne M., additional, Lambert, Michele P., additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Makris, Mike, additional, Mangles, Sarah, additional, Mathias, Mary, additional, Millar, Carolyn M., additional, Mumford, Andrew, additional, Nurden, Paquita, additional, Payne, Jeanette, additional, Pasi, John, additional, Peerlinck, Kathelijne, additional, Revel-Vilk, Shoshana, additional, Richards, Michael, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Sivapalaratnam, Suthesh, additional, Stubbs, Matthew, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Thachil, Jecko, additional, Toh, Cheng-Hock, additional, Turro, Ernest, additional, Van Geet, Chris, additional, De Vries, Minka, additional, Warner, Timothy Q., additional, Watson, Henry, additional, Westbury, Sarah, additional, Furnell, Abigail, additional, Mapeta, Rutendo, additional, Rayner-Matthews, Paula, additional, Simeoni, Ilenia, additional, Staines, Simon, additional, Stephens, Jonathan, additional, Watt, Christopher, additional, Whitehorn, Deborah, additional, Attwood, Antony, additional, Daugherty, Louise, additional, Deevi, Sri V.V., additional, Halmagyi, Csaba, additional, Hu, Fengyuan, additional, Matser, Vera, additional, Meacham, Stuart, additional, Megy, Karyn, additional, Shamardina, Olga, additional, Titterton, Catherine, additional, Tuna, Salih, additional, Yu, Ping, additional, von Ziegenweldt, Julie, additional, Astle, William, additional, Bleda, Marta, additional, Gräf, Stefan, additional, Haimel, Matthias, additional, Lango-Allen, Hana, additional, Richardson, Sylvia, additional, Calleja, Paul, additional, Rankin, Stuart, additional, Turek, Wojciech, additional, Anderson, Julie, additional, Bryson, Christine, additional, Carmichael, Jenny, additional, McJannet, Coleen, additional, Stock, Sophie, additional, Allen, Louise, additional, Ambegaonkar, Gautum, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Bitner-Glindzicz, Maria, additional, Brady, Angie, additional, Canham, Natalie, additional, Chitre, Manali, additional, Clement, Emma, additional, Clowes, Virginia, additional, Deegan, Patrick, additional, Deshpande, Charu, additional, Doffinger, Rainer, additional, Firth, Helen, additional, Flinter, Frances, additional, French, Courtney, additional, Gardham, Alice, additional, Ghali, Neeti, additional, Gissen, Paul, additional, Grozeva, Detelina, additional, Henderson, Robert, additional, Hensiek, Anke, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hurst, Jane, additional, Josifova, Dragana, additional, Krishnakumar, Deepa, additional, Lees, Melissa, additional, MacLaren, Robert, additional, Maw, Anna, additional, Mehta, Sarju, additional, Michaelides, Michel, additional, Moore, Anthony, additional, Murphy, Elaine, additional, Park, Soo-Mi, additional, Parker, Alasdair, additional, Patch, Chris, additional, Paterson, Joan, additional, Rankin, Julia, additional, Reid, Evan, additional, Rosser, Elisabeth, additional, Sandford, Richard, additional, Santra, Saikat, additional, Scott, Richard, additional, Sohal, Aman, additional, Stein, Penelope, additional, Thomas, Ellen, additional, Thompson, Dorothy, additional, Tischkowitz, Marc, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wassmer, Evangeline, additional, Webster, Andrew, additional, Ali, Sonia, additional, Ali, Souad, additional, Boggard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Cookson, Victoria, additional, Corris, Paul A., additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Dormand, Natalie, additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghataorhe, Pavandeep K., additional, Ghio, Stefano, additional, Ghofrani, Ardi, additional, Gibbs, J. Simon R., additional, Girerd, Barbara, additional, Greenhalgh, Alan, additional, Hadinnapola, Charaka, additional, Houweling, Arjan C., additional, Humbert, Marc, additional, in’t Veld, Anna Huis, additional, Kennedy, Fiona, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lawrie, Allan, additional, Ross, Rob V. Mackenzie, additional, Machado, Rajiv, additional, Masati, Larahmie, additional, Meehan, Sharon, additional, Moledina, Shahin, additional, Montani, David, additional, Othman, Shokri, additional, Peacock, Andrew J., additional, Pepke-Zaba, Joanna, additional, Pollock, Val, additional, Polwarth, Gary, additional, Ranganathan, Lavanya, additional, Rhodes, Christopher J., additional, Rue-Albrecht, Kevin, additional, Schotte, Gwen, additional, Shipley, Debbie, additional, Soubrier, Florent, additional, Southgate, Laura, additional, Scelsi, Laura, additional, Suntharalingam, Jay, additional, Tan, Yvonne, additional, Toshner, Mark, additional, Treacy, Carmen M., additional, Trembath, Richard, additional, Vonk Noordegraaf, Anton, additional, Walker, Sara, additional, Wanjiku, Ivy, additional, Wharton, John, additional, Wilkins, Martin, additional, Wort, Stephen J., additional, Yates, Katherine, additional, Alachkar, Hana, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Bacchelli, Chiara, additional, Baxendale, Helen, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Booth, Claire, additional, Browning, Michael, additional, Burns, Siobhan, additional, Chandra, Anita, additional, Cooper, Nichola, additional, Davies, Sophie, additional, Devlin, Lisa, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Ghurye, Rohit, additional, Gilmour, Kimberley, additional, Goddard, Sarah, additional, Gordins, Pavel, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hague, Rosie, additional, Harper, Lorraine, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jolles, Stephen, additional, Kelleher, Peter, additional, Kumararatne, Dinakantha, additional, Lear, Sara, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Maimaris, Jesmeen, additional, Manson, Ania, additional, McDermott, Elizabeth, additional, Murng, Sai, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Oksenhendler, Eric, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Richter, Alex, additional, Samarghitean, Crina, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Staples, Emily, additional, Stauss, Hans, additional, Thaventhiran, James, additional, Thomas, Moira, additional, Welch, Steve, additional, Willcocks, Lisa, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Ancliff, Phil, additional, Babbs, Christian, additional, Layton, Mark, additional, Louka, Eleni, additional, McGowan, Simon, additional, Mead, Adam, additional, Roy, Noémi, additional, Chambers, Jenny, additional, Dixon, Peter, additional, Estiu, Cecelia, additional, Hague, Bill, additional, Marschall, Hanns-Ulrich, additional, Simpson, Michael, additional, Chong, Sam, additional, Emmerson, Ingrid, additional, Ginsberg, Lionel, additional, Gosal, David, additional, Hadden, Rob, additional, Horvath, Rita, additional, Mahdi-Rogers, Mohamed, additional, Manzur, Adnan, additional, Marshall, Andrew, additional, Matthews, Emma, additional, McCarthy, Mark, additional, Reilly, Mary, additional, Renton, Tara, additional, Rice, Andrew, additional, Themistocleous, Andreas, additional, Vale, Tom, additional, Van Zuydam, Natalie, additional, Walker, Suellen, additional, Ormondroyd, Liz, additional, Hudson, Gavin, additional, Wei, Wei, additional, Yu Wai Man, Patrick, additional, Whitworth, James, additional, Afzal, Maryam, additional, Colby, Elizabeth, additional, Saleem, Moin, additional, Alavijeh, Omid S., additional, Cook, H. Terry, additional, Johnson, Sally, additional, Levine, Adam P., additional, Wong, Edwin K.S., additional, Tan, Rhea, additional, MacKenzie, Alex, additional, Majewski, Jacek, additional, Brudno, Michael, additional, Bulman, Dennis, additional, and Dyment, David, additional
Published: 2018
Full Text: View/download PDF

27. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Author: Mignot, Cyril, von Stülpnagel, Celina, Nava, Caroline, Ville, Dorothée, Sanlaville, Damien, Lesca, Gaetan, Rastetter, Agnès, Gachet, Benoit, Marie, Yannick, Korenke, G Christoph, Borggraefe, Ingo, Hoffmann-Zacharska, Dorota, Szczepanik, Elżbieta, Rudzka-Dybała, Mariola, Yiş, Uluç, Çağlayan, Hande, Isapof, Arnaud, Marey, Isabelle, Panagiotakaki, Eleni, Korff, Christian, Rossier, Eva, Riess, Angelika, Beck-Woedl, Stefanie, Rauch, Anita, Zweier, Christiane, Hoyer, Juliane, Reis, André, Mironov, Mikhail, Bobylova, Maria, Mukhin, Konstantin, et al, University of Zurich, and Mignot, Cyril
Subjects: 2716 Genetics (clinical), 1311 Genetics, 10039 Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health
Published: 2016
Full Text: View/download PDF

28. A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author: Tabet, Anne-Claude, primary, Rolland, Thomas, additional, Ducloy, Marie, additional, Lévy, Jonathan, additional, Buratti, Julien, additional, Mathieu, Alexandre, additional, Haye, Damien, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Passemard, Sandrine, additional, Capri, Yline, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Marey, Isabelle, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Pipiras, Eva, additional, Benzacken, Brigitte, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Le Caignec, Cédric, additional, Beneteau, Claire, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, David, Albert, additional, El Khattabi, Laila, additional, Kemeny, Stephan, additional, Gouas, Laetitia, additional, Vago, Philippe, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Missirian, Chantal, additional, Philip, Nicole, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Satre, Véronique, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vuillaume, Marie-Laure, additional, Rooryck, Caroline, additional, Lacombe, Didier, additional, Pinson, Lucile, additional, Gatinois, Vincent, additional, Puechberty, Jacques, additional, Chiesa, Jean, additional, Lespinasse, James, additional, Dubourg, Christèle, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Journel, Hubert, additional, Toutain, Annick, additional, Martin, Dominique, additional, Benmansour, Abdelamdjid, additional, Leblond, Claire S., additional, Toro, Roberto, additional, Amsellem, Frédérique, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional
Published: 2017
Full Text: View/download PDF

29. Anthropometric charts and congenital anomalies in newborns with Down syndrome

Author: Mircher, Clotilde, primary, Toulas, Jeanne, additional, Cieuta-Walti, Cécile, additional, Marey, Isabelle, additional, Conte, Martine, additional, González Briceño, Laura, additional, Tanguy, Marie-Laure, additional, Rethore, Marie-Odile, additional, and Ravel, Aime, additional
Published: 2017
Full Text: View/download PDF

30. Acute regression in young people with Down Syndrome

Author: Cieuta-Walti, Cécile, primary, Mircher, Clotilde, additional, Rebillat, Anne-Sophie, additional, Marey, Isabelle, additional, Cretu, Laura, additional, Milenko, Eliane, additional, Conte, Martine, additional, Toulas, Jeanne, additional, Walti, Hervé, additional, and Ravel, Aimé, additional
Published: 2017
Full Text: View/download PDF

31. Acute Regression in Young People with Down Syndrome

Author: Mircher, Clotilde, primary, Cieuta-Walti, Cécile, additional, Marey, Isabelle, additional, Rebillat, Anne-Sophie, additional, Cretu, Laura, additional, Milenko, Eliane, additional, Conte, Martine, additional, Sturtz, Franck, additional, Rethore, Marie-Odile, additional, and Ravel, Aimé, additional
Published: 2017
Full Text: View/download PDF

32. A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Author: Tabet, Anne-Claude, primary, Rolland, Thomas, additional, Ducloy, Marie, additional, Lévy, Jonathan, additional, Buratti, Julien, additional, Mathieu, Alexandre, additional, Haye, Damien, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Passemard, Sandrine, additional, Capri, Yline, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Marey, Isabelle, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Pipiras, Eva, additional, Benzacken, Brigitte, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Le Caignec, Cédric, additional, Beneteau, Claire, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, David, Albert, additional, Dupont, Jean-Michel, additional, Kemeny, Stephan, additional, Gouas, Laetitia, additional, Vago, Philippe, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Missirian, Chantal, additional, Philip, Nicole, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Satre, Véronique, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vuillaume, Marie-Laure, additional, Rooryck, Caroline, additional, Lacombe, Didier, additional, Pinson, Lucile, additional, Gatinois, Vincent, additional, Puechberty, Jacques, additional, Chiesa, Jean, additional, Lespinasse, James, additional, Dubourg, Christèle, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Journel, Hubert, additional, Toutain, Annick, additional, Martin, Dominique, additional, Benmansour, Abdelamdjid, additional, Toro, Roberto, additional, Amsellem, Frédérique, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional
Published: 2017
Full Text: View/download PDF

33. Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome

Author: Xavier, Jean, primary, Bourvis, Nadège, additional, Tanet, Antoine, additional, Ramos, Tatiana, additional, Perisse, Didier, additional, Marey, Isabelle, additional, Cohen, David, additional, and Consoli, Angèle, additional
Published: 2016
Full Text: View/download PDF

34. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Author: Marey, Isabelle, primary, Ben Yaou, Rabah, additional, Deburgrave, Nathalie, additional, Vasson, Aurélie, additional, Nectoux, Juliette, additional, Leturcq, France, additional, Eymard, Bruno, additional, Laforet, Pascal, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Mayer, Michèle, additional, Tiffreau, Vincent, additional, Desguerre, Isabelle, additional, Boyer, François Constant, additional, Nadaj-Pakleza, Aleksandra, additional, Ferrer, Xavier, additional, Wahbi, Karim, additional, Becane, Henri-Marc, additional, Claustres, Mireille, additional, Chelly, Jamel, additional, and Cossee, Mireille, additional
Published: 2016
Full Text: View/download PDF

35. Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome

Author: Brioude, Frederic, primary, Nicolas, Carole, additional, Marey, Isabelle, additional, Gaillard, Stephan, additional, Bernier, Michèle, additional, Das Neves, Cristina, additional, Le Bouc, Yves, additional, Touraine, Philippe, additional, and Netchine, Irene, additional
Published: 2016
Full Text: View/download PDF

36. 0486: Postmortem genetic testing in a series of 36 young patients after sudden cardiac death

Author: Marey, Isabelle, primary, Fressart, Véronique, additional, Rambaud, Caroline, additional, Gandjbakhch, Estelle, additional, Le Boette, Elsa, additional, Bordet, Céline, additional, Mallet, Audrey, additional, De La Grandmaison, Geoffrey Lorin, additional, Richard, Pascale, additional, and Charron, Philippe, additional
Published: 2015
Full Text: View/download PDF

37. Non Random Distribution of DMDDeletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Author: Marey, Isabelle, Ben Yaou, Rabah, Deburgrave, Nathalie, Vasson, Aurélie, Nectoux, Juliette, Leturcq, France, Eymard, Bruno, Laforet, Pascal, Behin, Anthony, Stojkovic, Tanya, Mayer, Michèle, Tiffreau, Vincent, Desguerre, Isabelle, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Ferrer, Xavier, Wahbi, Karim, Becane, Henri-Marc, Claustres, Mireille, Chelly, Jamel, and Cossee, Mireille
Abstract: Background:Dystrophinopathies are mostly caused by copy number variations, especially deletions, in the dystrophin gene (DMD). Despite the large size of the gene, deletions do not occur randomly but mainly in two hot spots, the main one involving exons 45 to 55. The underlying mechanisms are complex and implicate two main mechanisms: Non-homologous end joining (NHEJ) and micro-homology mediated replication-dependent recombination (MMRDR). Objective:Our goals were to assess the distribution of intronic breakpoints (BPs) in the genomic sequence of the main hot spot of deletions within DMDgene and to search for specific sequences at or near to BPs that might promote BP occurrence or be associated with DNA break repair. Methods:Using comparative genomic hybridization microarray, 57 deletions within the intron 44 to 55 region were mapped. Moreover, 21 junction fragments were sequenced to search for specific sequences. Results:Non-randomly distributed BPs were found in introns 44, 47, 48, 49 and 53 and 50% of BPs clustered within genomic regions of less than 700bp. Repeated elements (REs), known to promote gene rearrangement via several mechanisms, were present in the vicinity of 90% of clustered BPs and less frequently (72%) close to scattered BPs, illustrating the important role of such elements in the occurrence of DMDdeletions. Palindromic and TTTAAA sequences, which also promote DNA instability, were identified at fragment junctions in 20% and 5% of cases, respectively. Micro-homologies (76%) and insertions or deletions of small sequences were frequently found at BP junctions. Conclusions:Our results illustrate, in a large series of patients, the important role of RE and other genomic features in DNA breaks, and the involvement of different mechanisms in DMDgene deletions: Mainly replication error repair mechanisms, but also NHEJ and potentially aberrant firing of replication origins. A combination of these mechanisms may also be possible.
Published: 2016
Full Text: View/download PDF

38. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Author: Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, and Odent S
Subjects: Humans, Male, Female, Fetus pathology, Mutation, Phenotype, Prenatal Diagnosis, Exome Sequencing, Genetic Association Studies methods, Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Abnormalities, Multiple diagnosis, Pedigree, Pregnancy, Genetic Diseases, X-Linked genetics, Genetic Diseases, X-Linked pathology, Genetic Diseases, X-Linked diagnosis
Abstract: Introduction: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described., Method: After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases., Results: We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in RLIM , outside of the two previously known mutational hotspots., Conclusion: Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)
Published: 2024
Full Text: View/download PDF

39. Growth charts in DYRK1A syndrome.

Author: Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, and Vincent M
Subjects: Male, Female, Child, Humans, Growth Charts, Syndrome, Body Mass Index, Body Height genetics, Microcephaly diagnosis, Microcephaly genetics, Intellectual Disability diagnosis, Intellectual Disability genetics
Abstract: DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0-5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome., (© 2023 Wiley Periodicals LLC.)
Published: 2024
Full Text: View/download PDF

40. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Author: Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, and Doco-Fenzy M
Subjects: Humans, Chromosomes, Human, Pair 1, Muscle Hypotonia, Chromosome Deletion, Phenotype, Down Syndrome, DiGeorge Syndrome, Intellectual Disability, Microcephaly, Epilepsy
Abstract: Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Published: 2023
Full Text: View/download PDF

41. Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Author: Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, and Bourgeron T
Abstract: [This corrects the article DOI: 10.1038/s41525-017-0035-2.].
Published: 2019
Full Text: View/download PDF

42. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Author: Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S, Lemke JR, Héron D, Kluger G, and Depienne C
Abstract: Objective: We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations., Methods: We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed., Results: We describe 17 unrelated affected individuals carrying 13 different novel loss-of-function SYNGAP1 mutations. Developmental delay was the first manifestation of SYNGAP1-related encephalopathy; intellectual disability became progressively obvious and was associated with autistic behaviours in eight patients. Hypotonia and unstable gait were frequent associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3' and 5' exons. Seizures in patients with mutations in exons 4-5 were more pharmacoresponsive than in patients with mutations in exons 8-15., Conclusions: SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent triggers., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)
Published: 2016
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Database

Publisher

42 results on '"Marey, Isabelle"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources