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2. Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Author

Bar, Claire, Breuillard, Delphine, Kuchenbuch, Mathieu, Jennesson, Mélanie, Le Guyader, Gwenaël, Isnard, Hervé, Rolland, Anne, Doummar, Diane, Fluss, Joel, Afenjar, Alexandra, Berquin, Patrick, De Saint Martin, Anne, Dupont, Sophie, Goldenberg, Alice, Lederer, Damien, Lesca, Gaétan, Maurey, Hélène, Meyer, Pierre, Mignot, Cyril, Nica, Anca, Odent, Sylvie, Poisson, Alice, Scalais, Emmanuel, Sekhara, Tayeb, Vrielynck, Pascal, Barcia, Giulia, and Nabbout, Rima

Published
2022
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3. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Author

Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, and Lecoquierre, François

Published
2022
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4. Defining the phenotypic spectrum of SLC6A1 mutations

Author

Johannesen, Katrine M, Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Martin, Anne Saint, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J Lawrence, Rodan, Lance H, Tan, Wen‐Hann, Bird, Lynne M, Nespeca, Mark, Gleeson, Joseph G, Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S, Schelhaas, Helenius J, Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G, Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E, Pisani, Laura, Myers, Candace T, Tang, Sha, Tang, Shan, Pal, Deb K, Millichap, John J, Carvill, Gemma L, Helbig, Kathrine L, Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C, and Møller, Rikke S

Subjects
Behavioral and Social Science, Neurodegenerative, Neurosciences, Genetics, Epilepsy, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Anticonvulsants, Ataxia, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsies, Myoclonic, Epilepsies, Partial, Epilepsy, Generalized, Female, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Phenotype, Treatment Outcome, Valproic Acid, Young Adult, epilepsy, epilepsy genetics, MAE, SLC6A1, MAE, SLC6A1, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.MethodsWe collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.ResultsCognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).SignificanceMost patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.

Published
2018

5. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, Jr, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Published
2022
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6. Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

Author

Domínguez Carral, Jana, primary, Reinhard, Carola, additional, Ebrahimi-Fakhari, Darius, additional, Dorison, Nathalie, additional, Galosi, Serena, additional, Garone, Giacomo, additional, Malenica, Masa, additional, Ravelli, Claudia, additional, Serdaroglu, Esra, additional, van de Pol, Laura A., additional, Koy, Anne, additional, Leuzzi, Vincenzo, additional, Roubertie, Agathe, additional, Lin, Jean-Pierre, additional, Doummar, Diane, additional, Cif, Laura, additional, and Ortigoza-Escobar, Juan Darío, additional

Published
2024
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7. Tremor-like subcortical myoclonus in STXBP1 encephalopathy

Author

Loussouarn, Anna, Doummar, Diane, Beaugendre, Yara, Bienvenu, Thierry, Charles, Perrine, Depienne, Christel, Dorison, Nathalie, Heide, Solveig, Héron, Delphine, Ioos, Christine, Keren, Boris, Métreau, Julia, Mochel, Fanny, Moutard, Marie-Laure, Ravelli, Claudia, Apartis, Emmanuelle, and Mignot, Cyril

Published
2021
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8. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Author

Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz-Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, and Thauvin-Robinet, Christel

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Ciliary Motility Disorders, Encephalocele, Face, Female, Heterozygote, Humans, Male, Mutation, Orofaciodigital Syndromes, Polycystic Kidney Diseases, Proteins, Retinitis Pigmentosa, ciliopathies, oral-facial-digital syndromes, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.

Published
2017

9. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Author

Ortigoza‐Escobar, Juan Darío, Zamani, Mina, Dorison, Nathalie, Sadeghian, Saeid, Azizimalamiri, Reza, Alvi, Javeria Raza, Sultan, Tipu, Galehdari, Hamid, Shariati, Gholamreza, Saberi, Alihossein, Leeuwen, Lisette, Zifarelli, Giovanni, Bauer, Peter, d'Hardemare, Vincent, Doummar, Diane, Roze, Emmanuel, Travaglini, Lorena, Nicita, Francesco, Ojea Ponce, Núria, and Zahraei, Seyed Mohammadsaleh

Abstract

Background: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). Objective: The aim was to provide insights into the clinical and genetic characteristics of ZBTB11‐related disorders (ZBTB11‐RD), with a particular emphasis on progressive complex movement abnormalities. Methods: Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. Results: All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. Conclusions: This study provides additional insights into the clinical features and spectrum of ZBTB11‐RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome

Author

Gerasimenko, Anna, primary, Mignot, Cyril, additional, Naggara, Olivier, additional, Coulet, Florence, additional, Ekram, Samar, additional, Heide, Solveig, additional, Sorato, Clarisse, additional, Mazowiecki, Maxime, additional, Perrin, Laurence, additional, Colas, Chrystelle, additional, Cusin, Veronica, additional, Caux, Frédéric, additional, Dardenne, Antoine, additional, El Chehadeh, Salima, additional, Verloes, Alain, additional, Maurey, Hélène, additional, Afenjar, Alexandra, additional, Petit, Florence, additional, Barete, Stéphane, additional, Boespflug‐Tanguy, Odile, additional, Bourrat, Emmanuelle, additional, Capri, Yline, additional, Ciorna, Viorica, additional, Deb, Wallid, additional, Doummar, Diane, additional, Perrier, Alexandre, additional, Guédon, Alexis, additional, Houdart, Emmanuel, additional, Isidor, Bertrand, additional, Jacquemont, Marie‐Line, additional, Buffet, Camille, additional, Mercier, Sandra, additional, Passemard, Sandrine, additional, Riquet, Audrey, additional, Ruaud, Lyse, additional, Schaefer, Elise, additional, Heron, Delphine, additional, Bisdorff, Annouk, additional, and Benusiglio, Patrick R., additional

Published
2024
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11. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Author

Uggenti, Carolina, Lepelley, Alice, Depp, Marine, Badrock, Andrew P., Rodero, Mathieu P., El-Daher, Marie-Thérèse, Rice, Gillian I., Dhir, Somdutta, Wheeler, Ann P., Dhir, Ashish, Albawardi, Waad, Frémond, Marie-Louise, Seabra, Luis, Doig, Jennifer, Blair, Natalie, Martin-Niclos, Maria José, Della Mina, Erika, Rubio-Roldán, Alejandro, García-Pérez, Jose L., Sproul, Duncan, Rehwinkel, Jan, Hertzog, Jonny, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Baruteau, Julien, Brochard, Karine, Buckley, Jonathan, Cavallera, Vanessa, Cereda, Cristina, De Waele, Liesbeth M. H., Dobbie, Angus, Doummar, Diane, Elmslie, Frances, Koch-Hogrebe, Margarete, Kumar, Ram, Lamb, Kate, Livingston, John H., Majumdar, Anirban, Lorenço, Charles Marques, Orcesi, Simona, Peudenier, Sylviane, Rostasy, Kevin, Salmon, Caroline A., Scott, Christiaan, Tonduti, Davide, Touati, Guy, Valente, Marialuisa, van der Linden, Jr., Hélio, Van Esch, Hilde, Vermelle, Marie, Webb, Kate, Jackson, Andrew P., Reijns, Martin A. M., Gilbert, Nick, and Crow, Yanick J.

Published
2020
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12. Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Author

Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, and Rudolf, Gabrielle

Published
2020
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13. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Author

Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., and Kruer, Michael C.

Published
2020
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17. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Author

Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, and Doummar, Diane

Published
2018
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18. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Author

Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Körber, Friederike, Stüve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline, Maarouf, Mohammad, Coubes, Philippe, and Cif, Laura

Published
2018
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19. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Author

Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., and de Vries, Bert B. A.

Published
2019
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20. SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

Author

Blanluet, Maud, Masliah-Planchon, Julien, Giurgea, Irina, Bielle, Franck, Girard, Elodie, Andrianteranagna, Mamy, Clemenceau, Stéphane, Bourneix, Christine, Burglen, Lydie, Doummar, Diane, Rapinat, Audrey, Oumoussa, Badreddine Mohand, Ayrault, Olivier, Pouponnot, Celio, Gentien, David, Pierron, Gaëlle, Delattre, Olivier, Doz, François, and Bourdeaut, Franck

Published
2019
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21. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Author

Valence, Stéphanie, Cochet, Emmanuelle, Rougeot, Christelle, Garel, Catherine, Chantot-Bastaraud, Sandra, Lainey, Elodie, Afenjar, Alexandra, Barthez, Marie-Anne, Bednarek, Nathalie, Doummar, Diane, Faivre, Laurence, Goizet, Cyril, Haye, Damien, Heron, Bénédicte, Kemlin, Isabelle, Lacombe, Didier, Milh, Mathieu, Moutard, Marie-Laure, Riant, Florence, Robin, Stéphanie, Roubertie, Agathe, Sarda, Pierre, Toutain, Annick, Villard, Laurent, Ville, Dorothée, Billette de Villemeur, Thierry, Rodriguez, Diana, and Burglen, Lydie

Published
2019
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22. Congenital immobility and stiffness related to biallelic ATAD1 variants

Author

Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, and Mignot, Cyril

Published
2020
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23. Movement disorders in patients with alternating hemiplegia: “Soft” and “stiff” at the same time

Author

Panagiotakaki, Eleni, Doummar, Diane, Nogue, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie Anne, Nassogne, Marie Cécile, Dusser, Anne, Vallée, Louis, Billette, Thierry, Bourgeois, Marie, Ioos, Christine, Gitiaux, Cyril, Laroche, Cécile, Milh, Mathieu, Portes, Vincent Des, Arzimanoglou, Alexis, and Roubertie, Agathe

Published
2020
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24. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability

Author

Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stéphanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette de Villemeur, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stéphane, Bonnefont, Jean-Paul, and Nabbout, Rima

Published
2019
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25. Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood

Author

Roubergue, Anne, Philibert, Bertrand, Gautier, Agnès, Kuster, Alice, Markowicz, Karine, Billette de Villemeur, Thierry, Vuillaumier-Barrot, Sandrine, Nicole, Sophie, Roze, Emmanuel, Doummar, Diane, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2015
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26. 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
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27. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

Author

Mochel, Fanny, primary, Gras, Domitille, additional, Luton, Marie-Pierre, additional, Nizou, Manon, additional, Giovannini, Donatella, additional, Delattre, Caroline, additional, AUBART, Mélodie, additional, BARTH, Magalie, additional, De Saint-Martin, Anne, additional, Doummar, Diane, additional, Essid, Nouha, additional, Garros, Alexa, additional, Le Camus, Caroline Hachon, additional, Hoebeke, Celia, additional, The Tich, Sylvie Nguyen, additional, Perivier, Maximilien, additional, Rivera, Serge, additional, Rolland, Anne, additional, Roubertie, Agathe, additional, Sarret, Catherine, additional, Sevin, Caroline, additional, Ville, Dorothee, additional, Sitbon, Marc, additional, Costa, Jean-Marc, additional, Pons, Roser, additional, GarcÃa-Cazorla, Angels, additional, Vuillaumier, Sandrine, additional, Petit, Vincent, additional, Boespflug-Tanguy, Odile, additional, and De Vivo, Darryl C., additional

Published
2023
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28. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Author

Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F., Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., and Stessman, Holly A.F.

Abstract

Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5Brelated neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Published
2023

29. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Author

Sheppard, Sarah E., primary, Bryant, Laura, additional, Wickramasekara, Rochelle N., additional, Vaccaro, Courtney, additional, Robertson, Brynn, additional, Hallgren, Jodi, additional, Hulen, Jason, additional, Watson, Cynthia J., additional, Faundes, Victor, additional, Duffourd, Yannis, additional, Lee, Pearl, additional, Simon, M. Celeste, additional, de la Cruz, Xavier, additional, Padilla, Natália, additional, Flores-Mendez, Marco, additional, Akizu, Naiara, additional, Smiler, Jacqueline, additional, Pellegrino Da Silva, Renata, additional, Li, Dong, additional, March, Michael, additional, Diaz-Rosado, Abdias, additional, Peixoto de Barcelos, Isabella, additional, Choa, Zhao Xiang, additional, Lim, Chin Yan, additional, Dubourg, Christèle, additional, Journel, Hubert, additional, Demurger, Florence, additional, Mulhern, Maureen, additional, Akman, Cigdem, additional, Lippa, Natalie, additional, Andrews, Marisa, additional, Baldridge, Dustin, additional, Constantino, John, additional, van Haeringen, Arie, additional, Snoeck-Streef, Irina, additional, Chow, Penny, additional, Hing, Anne, additional, Graham, John M., additional, Au, Margaret, additional, Faivre, Laurence, additional, Shen, Wei, additional, Mao, Rong, additional, Palumbos, Janice, additional, Viskochil, David, additional, Gahl, William, additional, Tifft, Cynthia, additional, Macnamara, Ellen, additional, Hauser, Natalie, additional, Miller, Rebecca, additional, Maffeo, Jessica, additional, Afenjar, Alexandra, additional, Doummar, Diane, additional, Keren, Boris, additional, Arn, Pamela, additional, Macklin-Mantia, Sarah, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Reis, André, additional, Zweier, Christiane, additional, Brewer, Carole, additional, Saggar, Anand, additional, Smeland, Marie F., additional, Kumar, Ajith, additional, Elmslie, Frances, additional, Deshpande, Charu, additional, Nizon, Mathilde, additional, Cogne, Benjamin, additional, van Ierland, Yvette, additional, Wilke, Martina, additional, van Slegtenhorst, Marjon, additional, Koudijs, Suzanne, additional, Chen, Jin Yun, additional, Dredge, David, additional, Pier, Danielle, additional, Wortmann, Saskia, additional, Kamsteeg, Erik-Jan, additional, Koch, Johannes, additional, Haynes, Devon, additional, Pollack, Lynda, additional, Titheradge, Hannah, additional, Ranguin, Kara, additional, Denommé-Pichon, Anne-Sophie, additional, Weber, Sacha, additional, Pérez de la Fuente, Rubén, additional, Sánchez del Pozo, Jaime, additional, Lezana Rosales, Jose Miguel, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Mei, Davide, additional, Mari, Francesco, additional, Guerrini, Renzo, additional, Lespinasse, James, additional, Tran Mau-Them, Frédéric, additional, Philippe, Christophe, additional, Dauriat, Benjamin, additional, Raymond, Laure, additional, Moutton, Sébastien, additional, Cueto-González, Anna M., additional, Tan, Tiong Yang, additional, Mignot, Cyril, additional, Grotto, Sarah, additional, Renaldo, Florence, additional, Drivas, Theodore G., additional, Hennessy, Laura, additional, Raper, Anna, additional, Parenti, Ilaria, additional, Kaiser, Frank J., additional, Kuechler, Alma, additional, Busk, Øyvind L., additional, Islam, Lily, additional, Siedlik, Jacob A., additional, Henderson, Lindsay B., additional, Juusola, Jane, additional, Person, Richard, additional, Schnur, Rhonda E., additional, Vitobello, Antonio, additional, Banka, Siddharth, additional, Bhoj, Elizabeth J., additional, and Stessman, Holly A. F., additional

Published
2023
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30. Dyskinetic Crisis in GNAO1-Related Disorder: A Comprehensive International Delphi Study

Author

Dominguez-Carral, Jana, primary, Reinhard, Carola, additional, Ebrahimi-Fakhari, Darius, additional, Dorison, Nathalie, additional, Galosi, Serena, additional, Garone, Giacomo, additional, Malenica, Masa, additional, Ravelli, Claudia, additional, Serdaroglu, Esra, additional, van de Pol, Laura, additional, Koy, Anne, additional, Leuzzi, Vincenzo, additional, Roubertie, Agathe, additional, Lin, Jean Pierre, additional, Doummar, Diane, additional, Cif, Laura, additional, and Ortigoza-Escobar, Juan Dario, additional

Published
2023
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31. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Author

Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., and Kruer, Michael C.

Published
2021
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32. From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Author

Hully, Marie, Vuillaumier-Barrot, Sandrine, Le Bizec, Christiane, Boddaert, Nathalie, Kaminska, Anna, Lascelles, Karine, de Lonlay, Pascale, Cances, Claude, des Portes, Vincent, Roubertie, Agathe, Doummar, Diane, LeBihannic, Anne, Degos, Bertrand, de Saint Martin, Anne, Flori, Elisabeth, Pedespan, Jean Michel, Goldenberg, Alice, Vanhulle, Catherine, Bekri, Soumeya, Roubergue, Anne, Heron, Bénédicte, Cournelle, Marie-Anne, Kuster, Alice, Chenouard, Alexis, Loiseau, Marie-Noelle, Valayannopoulos, Vassili, Chemaly, Nicole, Gitiaux, Cyril, Seta, Nathalie, and Bahi-Buisson, Nadia

Published
2015
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34. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Author

Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril, and DDD Study

Published
2017
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36. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Author

McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., and Yoon, Grace

Published
2018
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37. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies

Author

François‐Heude, Marie‐Céline, primary, Lebigot, Elise, additional, Roze, Emmanuel, additional, Warde, Marie Thérèse Abi, additional, Cances, Claude, additional, Damaj, Lena, additional, Espil, Caroline, additional, Fluss, Joel, additional, de Lonlay, Pascale, additional, Kern, Ilse, additional, Lenaers, Guy, additional, Munnich, Arnold, additional, Meyer, Pierre, additional, Spitz, Marie‐Aude, additional, Torre, Stéphanie, additional, Doummar, Diane, additional, Touati, Guy, additional, Leboucq, Nicolas, additional, and Roubertie, Agathe, additional

Published
2022
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38. Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

Author

Meuwissen, Marije, primary, Verstraeten, Aline, additional, Ranza, Emmanuelle, additional, Iwaszkiewicz, Justyna, additional, Bastiaansen, Maaike, additional, Mateiu, Ligia, additional, Nemegeer, Merlijn, additional, Meester, Josephina A.N., additional, Afenjar, Alexandra, additional, Amaral, Michelle, additional, Ballhausen, Diana, additional, Barnett, Sarah, additional, Barth, Magalie, additional, Asselbergh, Bob, additional, Spaas, Katrien, additional, Heeman, Bavo, additional, Bassetti, Jennifer, additional, Blackburn, Patrick, additional, Schaer, Marie, additional, Blanc, Xavier, additional, Zoete, Vincent, additional, Casas, Kari, additional, Courtin, Thomas, additional, Doummar, Diane, additional, Guerry, Frédéric, additional, Keren, Boris, additional, Pappas, John, additional, Rabin, Rachel, additional, Begtrup, Amber, additional, Shinawi, Marwan, additional, Vulto-van Silfhout, Anneke T., additional, Kleefstra, Tjitske, additional, Wagner, Matias, additional, Ziegler, Alban, additional, Schaefer, Elise, additional, Gerard, Benedicte, additional, De Bie, Charlotte I., additional, Holwerda, Sjoerd J.B., additional, Abbot, Mary Alice, additional, Antonarakis, Stylianos E., additional, and Loeys, Bart, additional

Published
2022
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40. Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

Author

Nava, Caroline, Rupp, Johanna, Boissel, Jean-Paul, Mignot, Cyril, Rastetter, Agnès, Amiet, Claire, Jacquette, Aurélia, Dupuits, Céline, Bouteiller, Delphine, Keren, Boris, Ruberg, Merle, Faudet, Anne, Doummar, Diane, Philippe, Anne, Périsse, Didier, Laurent, Claudine, Lebrun, Nicolas, Guillemot, Vincent, Chelly, Jamel, Cohen, David, Héron, Delphine, Brice, Alexis, Closs, Ellen I., and Depienne, Christel

Published
2015
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41. Highlighting the Dystonic Phenotype Related to GNAO1

Author

Wirth, Thomas, primary, Garone, Giacomo, additional, Kurian, Manju A., additional, Piton, Amélie, additional, Millan, Francisca, additional, Telegrafi, Aida, additional, Drouot, Nathalie, additional, Rudolf, Gabrielle, additional, Chelly, Jamel, additional, Marks, Warren, additional, Burglen, Lydie, additional, Demailly, Diane, additional, Coubes, Phillipe, additional, Castro‐Jimenez, Mayte, additional, Joriot, Sylvie, additional, Ghoumid, Jamal, additional, Belin, Jérémie, additional, Faucheux, Jean‐Marc, additional, Blumkin, Lubov, additional, Hull, Mariam, additional, Parnes, Mered, additional, Ravelli, Claudia, additional, Poulen, Gaëtan, additional, Calmels, Nadège, additional, Nemeth, Andrea H., additional, Smith, Martin, additional, Barnicoat, Angela, additional, Ewenczyk, Claire, additional, Méneret, Aurélie, additional, Roze, Emmanuel, additional, Keren, Boris, additional, Mignot, Cyril, additional, Beroud, Christophe, additional, Acosta, Fernando, additional, Nowak, Catherine, additional, Wilson, William G., additional, Steel, Dora, additional, Capuano, Alessandro, additional, Vidailhet, Marie, additional, Lin, Jean‐Pierre, additional, Tranchant, Christine, additional, Cif, Laura, additional, Doummar, Diane, additional, and Anheim, Mathieu, additional

Published
2022
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42. Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study

Author

Méneret, Aurélie, primary, Mohammad, Shekeeb S., additional, Cif, Laura, additional, Doummar, Diane, additional, DeGusmao, Claudio, additional, Anheim, Mathieu, additional, Barth, Magalie, additional, Damier, Philippe, additional, Demonceau, Nathalie, additional, Friedman, Jennifer, additional, Gallea, Cécile, additional, Gras, Domitille, additional, Gurgel‐Giannetti, Juliana, additional, Innes, Emily A., additional, Necpál, Ján, additional, Riant, Florence, additional, Sagnes, Sandrine, additional, Sarret, Catherine, additional, Seliverstov, Yury, additional, Paramanandam, Vijayashankar, additional, Shetty, Kuldeep, additional, Tranchant, Christine, additional, Doulazmi, Mohamed, additional, Vidailhet, Marie, additional, Pringsheim, Tamara, additional, and Roze, Emmanuel, additional

Published
2022
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44. Additional file 5 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 5: Table S2. Seizure and seizure-like episodes in affected individuals with at least one afebrile seizure.

Published
2022
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45. Additional file 6 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 6: Figure S1. TASK3 conformational changes define PC motions and channel gating. Figure S2. Detailed view of the TASK3 selectivity filter and surrounding residues. Figure S3. Distributions of K+ ions for selected positions along the transport process, and across variants. Figure S4. Genomic variants lead to changes in K+ concentration at the selectivity filter. Figure S5. Cellular localization of labelled TASK3 variants. Figure S6. Comparison of whole cell current density for Tyr205Cys in the presence of various cysteine-modifying agents.

Published
2022
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46. Additional file 1 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 1: Supplementary Note. Clinical Histories. Written clinical histories including genetic testing for each novel family in this study. Molecular Modeling Reveals Mutation-Specific Effects on Channel Mechanics. Molecular Dynamics Simulations Show Changes in Potassium Ion Distribution.

Published
2022
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47. Additional file 9 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 9: Table S5. A comparison of GPCRs regulation between TASK3 clinical variants and WT controls.

Published
2022
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48. Additional file 7 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 7: Table S3. A comparison of whole cell current density and reversal potentials between TASK3 clinical variants and matched WT controls.

Published
2022
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49. Additional file 8 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Author

Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.

Abstract

Additional file 8: Table S4. A comparison of inhibition by extracellular acidification (pH 6.4) between TASK3 clinical variants and WT controls.

Published
2022
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50. Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.

Author

Piarroux, Julie, Dimopoulou, Evgenia, Taieb, Guillaume, Souvannanorath, Sarah, Roze, Emmanuel, Lion-François, Laurence, Spitz, Marie-Aude, Broussolle, Emmanuel, Laurencin, Chloé, Chanson, Jean-Baptiste, Belleville-Goffeney, Johanna, François-Heude, Marie Céline, Meyer, Pierre, Khalil, Mirna, Dereure, Maelle, Doummar, Diane, Chevassus, Hugues, Apartis, Emmanuelle, and Roubertie, Agathe

Subjects
MOVEMENT disorders in children, ESSENTIAL tremor, TREMOR, QUALITY of life, MYOCLONUS
Abstract

Background: Essential tremor (ET) is considered the most frequent abnormal movement in the general population, with childhood onset in 5 to 30% of the patients. Methods: A multicenter, descriptive cross-sectional study enrolled patients 18 years with a definite diagnosis of ET according to the International Parkinson and Movement Disorders Society criteria. Demographic data, clinical and electrophysiological characteristics of the tremor, neurological examination and impact on quality of life were collected. Results: 9 males and 9 females were included (mean age of 13.9 years). Tremor was characterized by: upper limb onset at a mean age of 6.5 years; at enrollment, upper limbs localization, and involvement of an additional body region in 28% of the patients; kinetic tremor in all of the patients combined with postural tremor in 17 and rest tremor in 3; tremor mean frequency of 7.6 Hz, mean burst duration of 82.7 ms; identification of mild myoclonic jerks on the polymyographic recordings in 7 patients; altered quality of life with worse emotional outcomes in girls and when a disease duration >5 years was suggested. Discussion: Childhood-onset ET is associated with delayed diagnosis and remarkable functional impact. Electromyographic identification of additional mild myoclonus is a new finding whose significance is discussed. Highlights: ET onset involved upper limbs and at inclusion, 28% of the patients exhibited involvement of an additional body region. ET impacted quality of life for all patients. Girls and patients affected for >5 years reported worse emotional outcomes. Mild myoclonic jerks were identified on 7/17 polymyographic recordings. [ABSTRACT FROM AUTHOR]

Published
2023
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