Defining the phenotypic spectrum of SLC6A1 mutations

Summary Objective Pathogenic 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. Methods We collected 24 SLC6A1 probands and 6 affected f...

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Veröffentlicht in:	Epilepsia (Copenhagen) 2018-02, Vol.59 (2), p.389-402
Hauptverfasser:	Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, 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., Møller, Rikke S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Anticonvulsants - therapeutic use Ataxia Ataxia - complications Ataxia - genetics Ataxia - physiopathology Child Child, Preschool Cognitive ability Cohort Studies Convulsions & seizures EEG Electroencephalography Epilepsies, Myoclonic - complications Epilepsies, Myoclonic - drug therapy Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Epilepsies, Partial - complications Epilepsies, Partial - drug therapy Epilepsies, Partial - genetics Epilepsies, Partial - physiopathology Epilepsy epilepsy genetics Epilepsy, Generalized - complications Epilepsy, Generalized - drug therapy Epilepsy, Generalized - genetics Epilepsy, Generalized - physiopathology Female GABA Plasma Membrane Transport Proteins - genetics Genetic Association Studies Genetics Human genetics Humans Intellectual Disability - complications Intellectual Disability - genetics Intellectual Disability - physiopathology Language Language Development Disorders - complications Language Development Disorders - genetics Language Development Disorders - physiopathology Life Sciences MAE Male Mutation Mutation, Missense Neurodevelopmental Disorders - complications Neurodevelopmental Disorders - genetics Phenotype Phenotypes Seizures SLC6A1 Sleep Speech Treatment Outcome Valproic acid Valproic Acid - therapeutic use Young Adult
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