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European Journal of Medical Genetics|January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsiesLionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
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