Variant: rs121917995 

    present in Gene: LOC102724058;SCN1A-AS1;SCN1A
    present in Chromosome: 2
    Position on Chromosome: 165992368
    Alleles of this Variant: C/T

rs121917995 in LOC102724058;SCN1A-AS1;SCN1A gene and Movement Disorders PMID 9126059 1997 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 24097157 2014 Structure and function of voltage-gated sodium channels at atomic resolution.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

PMID 21463290 2011 Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

PMID 21269283 2011 Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

PMID 22719002 2012 Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 16430863 2006 Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 15880351 2005 SCN1A mutations and epilepsy.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

PMID 19400878 2009 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

PMID 15508915 2005 Severe myoclonic epilepsy in infancy: Dravet syndrome.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.