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Gene|June 1, 2002
New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) familiesPatrice Roll, Annick Massacrier, Sandrine Pereira, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 1, 2019
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutationsGaetan Lesca, Rikke S Møller, Gabrielle Rudolf, et al.
Frontiers in Cellular Neuroscience|June 15, 2017
Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A SubunitDmitry A Sibarov, Nadine Bruneau, Sergei M Antonov, et al.
Epilepsia|May 3, 2006
Language-induced epilepsy, acquired stuttering, and idiopathic generalized epilepsy: phenotypic study of one familyMaria Paola Valenti, Gabrielle Rudolf, Sophie Carré, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|August 12, 2009
Sushi repeat protein X-linked 2, a novel mediator of angiogenesisMarijana Miljkovic-Licina, Philippe Hammel, Sarah Garrido-Urbani, et al.
Epilepsia|March 20, 2004
Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypesSandrine Pereira, Patrice Roll, Jitka Krizova, et al.
Frontiers in Neurology|February 2, 2026
Spontaneous spike-and-wave discharges during sleep in mice: circadian distribution and impact on sleep qualityFederico Del Gallo, Valentina Salari, Marika Maggia, et al.
Frontiers in Cellular Neuroscience|February 11, 2020
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium ChannelXiao Mao, Nadine Bruneau, Quwen Gao, et al.
Epilepsia|May 8, 2024
Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptorsLouison Pineau, Emmanuelle Buhler, Sarah Tarhini, et al.
Epilepsia|June 14, 2013
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) currentStephan Lauxmann, Nadia Boutry-Kryza, Clotilde Rivier, et al.
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