Variant: rs121917954 

    present in Gene: SCN1A-AS1;SCN1A;LOC102724058
    present in Chromosome: 2
    Position on Chromosome: 166002699
    Alleles of this Variant: C/A;G

rs121917954 in SCN1A-AS1;SCN1A;LOC102724058 gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.

PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.

PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.

PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

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

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

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

PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

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