Showing results (31-40 of 112) with videos related to

Sort By:
Pageof 12
Epilepsia Open|July 9, 2025
Long-term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathyJordane Louis, Natalia Doudka, Marie-Solenne Félix, et al.
Epilepsia|April 1, 2016
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activityJérôme Devaux, Affef Abidi, Agathe Roubertie, et al.
Molecular Cytogenetics|June 18, 2015
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disabilityNancy Choucair, Cecile Mignon-Ravix, Pierre Cacciagli, et al.
Epilepsia|April 4, 2023
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variantCécile Mignon-Ravix, Florence Riccardi, Géraldine Daquin, et al.
European Journal of Human Genetics : EJHG|August 5, 2010
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotypePierre Cacciagli, Marie-Reine Haddad, Cécile Mignon-Ravix, et al.
Epilepsy Research|March 15, 2015
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disabilityAnne-Lise Poulat, Dorothée Ville, Julitta de Bellescize, et al.
Genetic Testing|August 16, 2002
Spectrum of MECP2 mutations in Rett syndromeThierry Bienvenu, Laurent Villard, Nicolas De Roux, et al.
Gene Expression Patterns : GEP|June 16, 2009
Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardationVincent Cantagrel, Marie-Reine Haddad, Philippe Ciofi, et al.
Journal of Medical Genetics|July 29, 2009
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasiaCécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, et al.
International Journal of Molecular Sciences|April 30, 2021
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett SyndromeYann Ehinger, Valerie Matagne, Valérie Cunin, et al.
Pageof 12