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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 1, 2020
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genesGabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, et al.Epilepsia|June 29, 2012
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autismGaetan Lesca, Gabrielle Rudolf, Audrey Labalme, et al.Epilepsia|December 31, 2013
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2Sarra Dimassi, Audrey Labalme, Gaetan Lesca, et al.European Journal of Medical Genetics|December 16, 2014
Molecular characterization of a cohort of 73 patients with infantile spasms syndromeNadia Boutry-Kryza, Audrey Labalme, Dorothee Ville, et al.Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.Neurology|May 13, 2014
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsyFabienne Picard, Periklis Makrythanasis, Vincent Navarro, et al.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.Nature Genetics|August 13, 2013
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunctionGaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, et al.Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.Pageof 5