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1. The French Version of the DABS: Adaptation Process and Preliminary Field Test

Author

von Rotz, Lorna, Courbois, Yannick, Des Portes, Vincent, Lacroix, Agnès, Reymond, Marie-Pierre, Tassé, Marc J., Touil, Nathalie, Tsao, Raphaele, and Straccia, Claudio

Abstract

The aim of this study was to develop a transcultural adaptation of the Diagnostic Adaptive Behavior Scale (DABS) in French and to perform a field evaluation of the adapted version of the tool (DABS-F). Eight experts in intellectual and developmental disabilities (IDD) and two professional translators formed two committees to translate the instrument. Thirty-four independent experts in IDD rated the clarity and relevance of the DABS-F. Results indicated complete agreement between the two translation committees and also demonstrated very satisfactory levels of clarity and relevance for the DABS-F. The latter result can be considered as evidence of the content validity of the adapted tool. Adjustments for the few items that presented less satisfactory results are discussed.

Published
2023
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2. Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 )

Author

Curie, Aurore, primary, Lion-François, Laurence, additional, Valayannopoulos, Vassili, additional, Perreton, Nathalie, additional, Gavanon, Marie, additional, Touil, Nathalie, additional, Brun-Laurisse, Amandine, additional, Gheurbi, Fahra, additional, Buchy, Marion, additional, Halep, Hulya, additional, Cheillan, David, additional, Mercier, Catherine, additional, Brassier, Anaïs, additional, Desnous, Béatrice, additional, Kassai, Behrouz, additional, De Lonlay, Pascale, additional, and Des Portes, Vincent, additional

Published
2024
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3. Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.

Author

Hagerman, Randi, Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Des Portes, Vincent, Stanfield, Andrew, Koumaras, Barbara, Rosenkranz, Gerd, Murgia, Alessandra, Wolf, Christian, Apostol, George, and von Raison, Florian

Subjects
Humans, Fragile X Syndrome, Indoles, Excitatory Amino Acid Antagonists, Placebos, Double-Blind Method, Mental Disorders, Dose-Response Relationship, Drug, Adolescent, Adult, Middle Aged, Child, Female, Male, Young Adult, Receptor, Metabotropic Glutamate 5, Dose-Response Relationship, Drug, Receptor, Metabotropic Glutamate 5
Abstract

Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual and developmental disabilities. Mavoglurant, a selective metabotropic glutamate receptor subtype-5 antagonist, has shown positive neuronal and behavioral effects in preclinical studies, but failed to demonstrate any behavioral benefits in two 12-week, randomized, placebo-controlled, double-blind, phase IIb studies in adults and adolescents with FXS. Here we report the long-term safety (primary endpoint) and efficacy (secondary endpoint) results of the open-label extensions. Adolescent (n = 119, aged 12-19 years) and adult (n = 148, aged 18-45 years) participants received up to 100 mg bid mavoglurant for up to 34 months. Both extension studies were terminated prematurely due to lack of proven efficacy in the core studies. Mavoglurant was well tolerated with no new safety signal. Five percent of adults and 16.9 percent of adolescents discontinued treatment due to adverse events. Gradual and consistent behavioral improvements as measured by the ABC-CFX scale were observed, which were numerically superior to those seen in the placebo arm of the core studies. These two extension studies confirm the long-term safety of mavoglurant in FXS, but further investigations are required to determine whether and under which conditions the significant preclinical results obtained with mGluR5 inhibition can translate to humans.

Published
2018

5. Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

Author

Berry-Kravis, Elizabeth M, Lindemann, Lothar, Jønch, Aia E, Apostol, George, Bear, Mark F, Carpenter, Randall L, Crawley, Jacqueline N, Curie, Aurore, Des Portes, Vincent, Hossain, Farah, Gasparini, Fabrizio, Gomez-Mancilla, Baltazar, Hessl, David, Loth, Eva, Scharf, Sebastian H, Wang, Paul P, Von Raison, Florian, Hagerman, Randi, Spooren, Will, and Jacquemont, Sébastien

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Brain Disorders, Orphan Drug, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric, Rare Diseases, Clinical Trials and Supportive Activities, Fragile X Syndrome, Clinical Research, Neurosciences, Autism, Behavioral and Social Science, Aetiology, 5.1 Pharmaceuticals, 2.1 Biological and endogenous factors, Development of treatments and therapeutic interventions, Mental health, Neurological, Animals, Clinical Trials as Topic, Drug Development, Drug Evaluation, Preclinical, Humans, Neurodevelopmental Disorders, Neurotransmitter Agents, Randomized Controlled Trials as Topic, Biological Sciences, Medical and Health Sciences, Pharmacology & Pharmacy, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches. These robust preclinical findings have led to the implementation of the most comprehensive drug development programme undertaken thus far for a genetically defined neurodevelopmental disorder, including phase IIb trials of metabotropic glutamate receptor 5 (mGluR5) antagonists and a phase III trial of a GABAB receptor agonist. However, none of the trials has been able to unambiguously demonstrate efficacy, and they have also highlighted the extent of the knowledge gaps in drug development for FXS and other neurodevelopmental disorders. In this Review, we examine potential issues in the previous studies and future directions for preclinical and clinical trials. FXS is at the forefront of efforts to develop drugs for neurodevelopmental disorders, and lessons learned in the process will also be important for such disorders.

Published
2018

9. Further characterisation ofARX-related disorders in females due to inherited or de novo variants

Author

Gras, Mathilde, primary, Heide, Solveig, additional, Keren, Boris, additional, Valence, Stéphanie, additional, Garel, Catherine, additional, Whalen, Sandra, additional, Jansen, Anna C, additional, Keymolen, Kathelijn, additional, Stouffs, Katrien, additional, Jennesson, Mélanie, additional, Poirsier, Céline, additional, Lesca, Gaetan, additional, Depienne, Christel, additional, Nava, Caroline, additional, Rastetter, Agnès, additional, Curie, Aurore, additional, Cuisset, Laurence, additional, Des Portes, Vincent, additional, Milh, Mathieu, additional, Charles, Perrine, additional, Mignot, Cyril, additional, and Héron, Delphine, additional

Published
2023
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10. GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms

Author

Ragnarsson, Lotten, primary, Zhang, Zihan, additional, Das, Sooraj S., additional, Tran, Poanna, additional, Andersson, Åsa, additional, des Portes, Vincent, additional, Desmettre Altuzarra, Cecilia, additional, Remerand, Ganaelle, additional, Labalme, Audrey, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Lesca, Gaetan, additional, Anggono, Victor, additional, Vetter, Irina, additional, and Keramidas, Angelo, additional

Published
2023
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12. The challenges of clinical trials in fragile X syndrome

Author

Jacquemont, Sébastien, Berry-Kravis, Elizabeth, Hagerman, Randi, von Raison, Florian, Gasparini, Fabrizio, Apostol, George, Ufer, Mike, Des Portes, Vincent, and Gomez-Mancilla, Baltazar

Subjects
Biological Psychology, Psychology, Fragile X Syndrome, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Neurosciences, Mental Health, Brain Disorders, Orphan Drug, Clinical Research, Rare Diseases, Behavioral and Social Science, 2.1 Biological and endogenous factors, Aetiology, Mental health, Animals, Child Development Disorders, Pervasive, Clinical Trials as Topic, Humans, Phenotype, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological psychology
Abstract

RationaleAdvances in understanding the underlying mechanisms of conditions such as fragile X syndrome (FXS) and autism spectrum disorders have revealed heterogeneous populations. Recent trials of novel FXS therapies have highlighted several challenges including subpopulations with possibly differential therapeutic responses, the lack of specific outcome measures capturing the full range of improvements of patients with FXS, and a lack of biomarkers that can track whether a specific mechanism is responsive to a new drug and whether the response correlates with clinical improvement.ObjectivesWe review the phenotypic heterogeneity of FXS and the implications for clinical research in FXS and other neurodevelopmental disorders.ResultsResidual levels of fragile X mental retardation protein (FMRP) expression explain in part the heterogeneity in the FXS phenotype; studies indicate a correlation with both cognitive and behavioral deficits. However, this does not fully explain the extent of phenotypic variance observed or the variability of drug response. Post hoc analyses of studies involving the selective mGluR5 antagonist mavoglurant and the GABAB agonist arbaclofen have uncovered significant therapeutic responses following patient stratification according to FMR1 promoter methylation patterns or baseline severity of social withdrawal, respectively. Future studies designed to quantify disease modification will need to develop new strategies to track changes effectively over time and in multiple symptom domains.ConclusionAppropriate selection of patients and outcome measures is central to optimizing future clinical investigations of these complex disorders.

Published
2014

13. Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Author

Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C., Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, and Charles, Perrine

Abstract

The Aristaless-related homeobox (ARX) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomplete. Carrier females in ARX families are usually asymptomatic, but ID has been reported in some of them, as well as in others with de novo variants. In this study, we collected the clinical and molecular data of 10 unpublished female patients with de novo ARX pathogenic variants and reviewed the data of 63 females from the literature with either de novo variants (n=10), inherited variants (n=33) or variants of unknown inheritance (n=20). Altogether, the clinical spectrum of females with heterozygous pathogenic ARX variants is broad: 42.5% are asymptomatic, 16.4% have isolated agenesis of the corpus callosum (ACC) or mild symptoms (learning disabilities, autism spectrum disorder, drug-responsive epilepsy) without ID, whereas 41% present with a severe phenotype (ie, ID or developmental and epileptic encephalopathy (DEE)). The ID/DEE phenotype was significantly more prevalent in females carrying de novo variants (75%, n=15/20) versus in those carrying inherited variants (27.3%, n=9/33). ACC was observed in 66.7% (n=24/36) of females who underwent a brain MRI. By refining the clinical spectrum of females carrying ARX pathogenic variants, we show that ID is a frequent sign in females with this X linked condition. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Author

Sideropoulos, Vassilis, primary, Van Herwegen, Jo, additional, Meuleman, Ben, additional, Alessandri, Michael, additional, Alnemary, Faisal M, additional, Rad, Jamal Amani, additional, Lavenex, Pamela A Banta, additional, Bolshakov, Nikita, additional, Bölte, Sven, additional, Buffle, Paulina, additional, Cai, Ru Y, additional, Campos, Ruth, additional, Chirita-Emandi, Adela, additional, Costa, Andreia P, additional, Costanzo, Floriana, additional, Des Portes, Vincent, additional, Dukes, Daniel, additional, Faivre, Laurence, additional, Famelart, Nawelle, additional, Fisher, Marisa H, additional, Gamaiunova, Liudmilla, additional, Giannadou, Aikaterini, additional, Gupta, Rashmi, additional, Hardan, Antonio Y, additional, Houdayer-Robert, Françoise, additional, Hrncirova, Lenka, additional, Iaochite, Roberto Tadeu, additional, Jariabkova, Katarina, additional, Klein-Tasman, Bonita P, additional, Lavenex, Pierre, additional, Malik, Supriya, additional, Mari, Francesca, additional, Martinez-Castilla, Pastora, additional, Menghini, Deny, additional, Nuske, Heather J, additional, Palikara, Olympia, additional, Papon, Anouk, additional, Pegg, Robin S, additional, Pouretemad, Hamidreza, additional, Poustka, Luise, additional, Prosetzky, Ingolf, additional, Renieri, Alessandra, additional, Rhodes, Sinead M, additional, Riby, Deborah M, additional, Rossi, Massimiliano, additional, Sadeghi, Saeid, additional, Su, Xueyen, additional, Tai, Claire, additional, Tran, Michel, additional, Tynan, Fionnuala, additional, Uljarević, Mirko, additional, Van Hecke, Amy V, additional, Veiga, Guida, additional, Verloes, Alain, additional, Vicari, Stefano, additional, Werneck-Rohrer, Sonja G, additional, Zander, Eric, additional, and Samson, Andrea C, additional

Published
2023
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17. 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
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18. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Author

Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R., Layman, Lawrence C., Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, and Kim, Cheol-Hee

Published
2019
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20. Diagnostic Adaptive Behavior Scale--French Version

Author

von Rotz, Lorna, primary, Courbois, Yannick, additional, Des Portes, Vincent, additional, Lacroix, Agnès, additional, Reymond, Marie-Pierre, additional, Tassé, Marc J., additional, Touil, Nathalie, additional, Tsao, Raphaele, additional, and Straccia, Claudio, additional

Published
2023
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22. 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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23. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

Author

Boutry-Kryza, Nadia, Labalme, Audrey, Ville, Dorothee, de Bellescize, Julitta, Touraine, Renaud, Prieur, Fabienne, Dimassi, Sarra, Poulat, Anne-Lise, Till, Marianne, Rossi, Massimiliano, Bourel-Ponchel, Emilie, Delignières, Aline, Le Moing, Anne-Gaelle, Rivier, Clotilde, des Portes, Vincent, Edery, Patrick, Calender, Alain, Sanlaville, Damien, and Lesca, Gaetan

Published
2015
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24. New insights intoCC2D2A-related Joubert syndrome

Author

Harion, Madeleine, primary, Qebibo, Leila, additional, Riquet, Audrey, additional, Rougeot, Christelle, additional, Afenjar, Alexandra, additional, Garel, Catherine, additional, Louha, Malek, additional, Lacaze, Emmanuelle, additional, Audic-Gérard, Frédérique, additional, Barth, Magali, additional, Berquin, Patrick, additional, Bonneau, Dominique, additional, Bourdain, Frédéric, additional, Busa, Tiffany, additional, Colin, Estelle, additional, Cuisset, Jean-Marie, additional, Des Portes, Vincent, additional, Dorison, Nathalie, additional, Francannet, Christine, additional, Héron, Bénédicte, additional, Laroche, Cécile, additional, Lebrun, Marine, additional, Métreau, Julia, additional, Odent, Sylvie, additional, Pasquier, Laurent, additional, Trujillo, Yaumara Perdomo, additional, Perrin, Laurine, additional, Pinson, Lucile, additional, Rivier, François, additional, Sigaudy, Sabine, additional, Thauvin-Robinet, Christel, additional, Louvier, Ulrike Walther, additional, Labayle, Olivier, additional, Rodriguez, Diana, additional, Valence, Stéphanie, additional, and Burglen, Lydie, additional

Published
2022
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27. PIGN encephalopathy: Characterizing the epileptology

Author

Bayat, Allan, primary, de Valles‐Ibáñez, Guillem, additional, Pendziwiat, Manuela, additional, Knaus, Alexej, additional, Alt, Kerstin, additional, Biamino, Elisa, additional, Bley, Annette, additional, Calvert, Sophie, additional, Carney, Patrick, additional, Caro‐Llopis, Alfonso, additional, Ceulemans, Berten, additional, Cousin, Janice, additional, Davis, Suzanne, additional, des Portes, Vincent, additional, Edery, Patrick, additional, England, Eleina, additional, Ferreira, Carlos, additional, Freeman, Jeremy, additional, Gener, Blanca, additional, Gorce, Magali, additional, Heron, Delphine, additional, Hildebrand, Michael S., additional, Jezela‐Stanek, Aleksandra, additional, Jouk, Pierre‐Simon, additional, Keren, Boris, additional, Kloth, Katja, additional, Kluger, Gerhard, additional, Kuhn, Marius, additional, Lemke, Johannes R., additional, Li, Hong, additional, Martinez, Francisco, additional, Maxton, Caroline, additional, Mefford, Heather C., additional, Merla, Giuseppe, additional, Mierzewska, Hanna, additional, Muir, Alison, additional, Monfort, Sandra, additional, Nicolai, Joost, additional, Norman, Jennifer, additional, O'Grady, Gina, additional, Oleksy, Barbara, additional, Orellana, Carmen, additional, Orec, Laura Elena, additional, Peinhardt, Charlotte, additional, Pronicka, Ewa, additional, Rosello, Monica, additional, Santos‐Simarro, Fernando, additional, Schwaibold, Eva Maria Christina, additional, Stegmann, Alexander P. A., additional, Stumpel, Constance T., additional, Szczepanik, Elzbieta, additional, Terczyńska, Iwona, additional, Thevenon, Julien, additional, Tzschach, Andreas, additional, Van Bogaert, Patrick, additional, Vittorini, Roberta, additional, Walsh, Sonja, additional, Weckhuysen, Sarah, additional, Weissman, Barbara, additional, Wolfe, Lynne, additional, Reymond, Alexandre, additional, De Nittis, Pasquelena, additional, Poduri, Annapurna, additional, Olson, Heather, additional, Striano, Pasquale, additional, Lesca, Gaetan, additional, Scheffer, Ingrid E., additional, Møller, Rikke S., additional, and Sadleir, Lynette G., additional

Published
2022
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30. New insights into CC2D2A-related Joubert syndrome

Author

Harion, Madeleine, Qebibo, Leila, Riquet, Audrey, Rougeot, Christelle, Afenjar, Alexandra, Garel, Catherine, Louha, Malek, Lacaze, Emmanuelle, Audic-Gérard, Frédérique, Barth, Magali, Berquin, Patrick, Bonneau, Dominique, Bourdain, Frédéric, Busa, Tiffany, Colin, Estelle, Cuisset, Jean-Marie, Des Portes, Vincent, Dorison, Nathalie, Francannet, Christine, Héron, Bénédicte, Laroche, Cécile, Lebrun, Marine, Métreau, Julia, Odent, Sylvie, Pasquier, Laurent, Trujillo, Yaumara Perdomo, Perrin, Laurine, Pinson, Lucile, Rivier, Francois, Sigaudy, Sabine, Thauvin-Robinet, Christel, Louvier, Ulrike Walther, Labayle, Olivier, Rodriguez, Diana, Valence, Stéphanie, and Burglen, Lydie

Abstract

PurposeIn this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A.MethodsWe selected 53 patients with pathogenic variants on CC2D2A, compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature.ResultsDevelopmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties. Epilepsy was found in only 13% of cases. Only three patients had kidney cysts, only three had genuine retinal dystrophy and no subject had liver fibrosis or polydactyly. Brain MRIs showed typical signs of JS with rare additional features. Genotype–phenotype correlation findings demonstrate a homozygous truncating variant p.Arg950* linked to a more severe phenotype.ConclusionThis study contradicts previous literature stating an association between CC2D2A-related JS and ventriculomegaly. Our study implies that CC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling.

Published
2023
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31. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Author

Delcourt, Marion, Riant, Florence, Mancini, Josette, Milh, Mathieu, Navarro, Vincent, Roze, Emmanuel, Humbertclaude, Véronique, Korff, Christian, Des Portes, Vincent, Szepetowski, Pierre, Doummar, Diane, Echenne, Bernard, Quintin, Samuel, Leboucq, Nicolas, Singh Amrathlal, Rabbind, Rochette, Jacques, and Roubertie, Agathe

Published
2015
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33. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Author

Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, and Chelly, Jamel

Published
2013
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39. Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Author

Le Roux, Marie, van Gils, Julien, Gueden, Sophie, de Cepoy, Patrick Desbordes, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, Martin, Anne de Saint, Des Portes, Vincent, Lesca, Gaetan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, van Bogaert, Patrick, Hôpital des Enfants - Groupe hospitalier Pellegrin - CHU de Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Strasbourg, Hôpital Necker, Centre Hospitalier de la Côte Basque (CHCB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Nouvel Hôpital Civil de Strasbourg, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, 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), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Universitaire des Enfants Reine Fabiola [Bruxelles, Belgique] (HUDERF), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de recherche cerveau et cognition (CERCO), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Bordeaux [Bordeaux], CHU Pontchaillou [Rennes], CHU Pitié-Salpêtrière [AP-HP], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), Gall, Valérie, Le CHCB, Centre Hospitalier de la Côte Basque, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), and Jonchère, Laurent

Subjects
Male, medicine.medical_specialty, Neurology, [SDV]Life Sciences [q-bio], Mutation, Missense, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Germline, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Germline mutation, 030225 pediatrics, medicine, Humans, Missense mutation, STXBP1, PIGA- Glycosylphosphatidylinositol-encephalopathy –early-onset epilepsy- whole-exome sequencing-next-generation sequencing 1, Child, Germ-Line Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, Electroencephalography, General Medicine, medicine.disease, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], Epileptic spasms, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery
Abstract

International audience; The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exome sequencing. In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. Among these genes, germline mutations in Phosphatidyl Inositol Glycan A (PIGA) gene were first reported in 2012. Located on Xp22.2, PIGA is involved in the synthesis of GPI (glycosylphosphatidylinositol) which acts as a membrane anchor for different proteins: enzymes, adhesion molecules, regulation of the complement way, and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy, severe dysmorphic signs, multi-visceral anomalies and early death in the most severe forms. Here, we report five cases of germline PIGA mutations, with two missense mutations that have not been reported to date. We provide a new insight into the electroclinical phenotype. At the onset, epileptic spasms and focal-onset seizures with upper limbs and ocular involvements were present. Epilepsy proved pharmacoresistant in 4 out of 5 cases. Interictal EEG may be normal at the onset of epilepsy, but abnormalities in electroencephalographic studies were eventually present in all cases. Different types of seizures may be present simultaneously, and epileptic phenotypes evolve with aging.

Published
2020

40. Movement disorders in patients with alternating hemiplegia: 'Soft' and 'stiff' at the same time

Author

Panagiotakaki, Eleni, Doummar, Diane, Nogué, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie, Nassogne, Marie, Dusser, Anne, Vallée, Louis, Billette, Thierry, Bourgeois, Marie, Ioos, Christine, Gitiaux, Cyril, Laroche, Cécile, Milh, Mathieu, Des Portes, Vincent, Arzimanoglou, Alexis, Roubertie, Agathe, NICOLE, Sophie, Department of Paediatric Clinical Epileptology, sleep disorders and Functional Neurology, University Hospitals of Lyon, Member of the ERN EpiCARE, Lyon, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service de génétique moléculaire neurovasculaire, groupe hospitalier Saint-Louis Lariboisière-Fernand-Widal, 75010 Paris, France., Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie et Handicaps, Hôpital Gatien de Clocheville, CHU Tours, Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Service de Neuropédiatrie, CHU de Bicêtre, Service de Neuropédiatrie, CHU Lille, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neurochirurgie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Service de Neurologie Pédiatrique, Hôpital Raymond Poincarré, AP-HP, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Service de Neurologie Pédiatrique, CHU Timone Enfants, 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 de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon, Member of the ERN EpiCARE, Institut des Neurosciences de Montpellier (INM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

Subjects
[SDV] Life Sciences [q-bio], congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], ion channel gene defects, chorea, developmental disorders, dystonia, mental retardation, nervous system diseases
Abstract

International audience; AIM: To assess non-paroxysmal movement disorders in ATP1A3 mutation-positive patients with alternating hemiplegia of childhood (AHC).METHODS: Twenty-eight patients underwent neurological examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated to patients’ characteristics.RESULTS: Ten patients were diagnosed with chorea, 16 with dystonia (nonparoxysmal), 4 with myoclonus, and 2 with ataxia. Nine patients had more than one movement disorder and 8 patients had none. The degree of movement disorder was moderate to severe in 12/28 patients. At inclusion, dystonic patients (n=16) were older (p=0.007) than nondystonic patients. Moreover, patients (n=18) with dystonia or chorea, or both, had earlier disease onset (p=0.042) and more severe neurological impairment (p=0.012), but this did not correlate with genotype. All patients presented with hypotonia, which was characterized as moderate or severe in 16/28. Patients with dystonia or chorea (n=18) had more pronounced hypotonia (p=0.011). Bradykinesia (n=16) was associated with an early age at assessment (p

Published
2020

42. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

Author

Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, and Rossi, Massimiliano

Subjects
17q duplication, specific language impairment, chromosomal microarray, developmental coordination disorder, specific learning disorder, Case Report, Case Reports, 21q deletion, dyspraxia, humanities, health care economics and organizations
Abstract

Key Clinical Message Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15–20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD.

Published
2018

44. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Author

Freude, Kristine, Hoffmann, Kirsten, Jensen, Lars-Riff, Delatycki, Martin B., des Portes, Vincent, Moser, Bettina, Hamel, Ben, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Gecz, Jozef, Lenzner, Steffen, Kalscheuer, Vera M., and Ropers, Hans-Hilger

Subjects
Suppression, Genetic -- Research, Mental retardation -- Research, Mental retardation -- Reports, Genetic research, Biological sciences
Published
2004

46. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

Author

Jacquemont, Sebastien, Hagerman, Randi J., Leehey, Maureen, Grigsby, Jim, Zhang, Lin, Brunberg, James A., Greco, Claudia, Des Portes, Vincent, Jardini, Tristan, Levine, Richard, Berry-Kravis, Elizabeth, Brown, W. Ted, Schaeffer, Stephane, Kissel, John, Tassone, Flora, and Hagerman, Paul J.

Subjects
Mental retardation -- Genetic aspects, Mental retardation -- Research, Nervous system diseases -- Research, Nervous system diseases -- Genetic aspects, Biological sciences
Published
2003

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