Defining the phenotypic spectrum of SLC6A1 mutations

• Published in: Epilepsia (Copenhagen) Vol. 59; no. 2; pp. 389 - 402
• Main Authors: 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: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.02.2018; Wiley
• Subjects: 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; MAE; epilepsy; epilepsy genetics; SLC6A1

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...