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European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
Epilepsia|June 18, 2025
GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical featuresMarie Adamo-Croux, Chloé Angelini, Jérôme Aupy, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 23, 2020
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 casesSébastien Cabasson, Julien Van-Gils, Frédéric Villéga, et al.
Epilepsia|April 3, 2020
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairmentMathieu Milh, Pierre Roubertoux, Najoua Biba, et al.
American Journal of Human Genetics|September 10, 2013
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatusPierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, et al.
Ebiomedicine|February 18, 2026
Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changesCharissa Millevert, Nicholas Vidas-Guscic, Mohit H Adhikari, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 27, 2021
SYNGAP1-DEE: A visual sensitive epilepsyTommaso Lo Barco, Anna Kaminska, Roberta Solazzi, et al.
Epilepsia|June 9, 2025
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcomeClément Pierret, Florence Riccardi, Julien Neveu, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|December 16, 2005
Mecp2 deficiency disrupts norepinephrine and respiratory systems in miceJean-Charles Viemari, Jean-Christophe Roux, Andrew K Tryba, et al.
Brain Sciences|August 6, 2021
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental DisorderSiddharth Srivastava, Erica L Macke, Lindsay C Swanson, et al.
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