Results 171 to 180 of about 8,423 (186)

The SCN1A variant database: a novel research and diagnostic tool†

Human Mutation, 2009
: The neuronal voltage-gated sodium channel Nav1.1 encoded by the SCN1A gene plays an important role in the generation and propagation of action potentials in the central nervous system. Altered function of this channel due to mutations in SCN1A leads to
Jonathan Baets, Albena Jordanova, Liesbet Deprez   +2 more
exaly   +1 more source

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Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and Is Well Tolerated in Nonhuman Primates

Human Gene Therapy, 2022
Jennifer A. Kearney, Maria Candida Vila, Sirika Pillay   +2 more
exaly  

SCN1A mutations and epilepsy†

Human Mutation, 2005
Ingrid Scheffer, Steven Petrou, Leanne Dibbens   +2 more
exaly  

The spectrum of SCN1A-related infantile epileptic encephalopathies

Brain, 2007
Jacinta M McMahon, Ingrid Scheffer, Lynette Sadleir   +2 more
exaly  

Association between SCN1A polymorphism and carbamazepine-resistant epilepsy

British Journal of Clinical Pharmacology, 2008
Masaharu Hori, Takayuki Seo, Takateru Ishitsu   +2 more
exaly  

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

Biochemical and Biophysical Research Communications, 2002
Iori Ohmori, Mamoru Ouchida, Eiji Oka
exaly  

Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+)

Epilepsia, 2013
Andrew Escayg, Christopher Makinson, Sergio Tufik   +2 more
exaly  

The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

Epilepsia, 2015
Allan Bayat, Rikke S Møller
exaly  

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

Epilepsia, 2006
Davide Mei, Renzo Guerrini, Carla Marini
exaly  

First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

Cephalalgia, 2009
José Pereira-Monteiro, Michel Ferrari, Carolina Lemos   +2 more
exaly