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European Journal of Human Genetics : EJHG|October 22, 2015
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, et al.
Frontiers in Neurology|September 9, 2020
Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label StudyGianluca D'Onofrio, Mathieu Kuchenbuch, Caroline Hachon-Le Camus, et al.
Brain : a Journal of Neurology|September 16, 2008
Key clinical features to identify girls with CDKL5 mutationsNadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
Epilepsia|February 14, 2016
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complexSvetlana Gataullina, Eric Lemaire, Fabrice Wendling, et al.
Epilepsia|April 25, 2026
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathyMira Hamze, Robyn Whitney, Dorothée Ville, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Epilepsia|August 27, 2010
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora diseaseGaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, et al.
American Journal of Medical Genetics|September 5, 2002
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1Thomas Sander, Christine Windemuth, Herbert Schulz, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, 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.
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