Defining the phenotypic spectrum of SLC6A1 mutations - 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; et al. (Epilepsia (Copenhagen), 2018)
Keywords: 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