Variant: rs121917748 

    present in Gene: SCN2A
    present in Chromosome: 2
    Position on Chromosome: 165308751
    Alleles of this Variant: C/T

rs121917748 in SCN2A gene and SEIZURES, BENIGN FAMILIAL INFANTILE, 3 PMID 29844171 2018 Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

PMID 20371507 2010 Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

PMID 30144217 2018 Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

PMID 23758435 2013 An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

PMID 17021166 2006 Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

PMID 16417554 2006 A novel SCN2A mutation in family with benign familial infantile seizures.

PMID 12243921 2002 Sodium-channel defects in benign familial neonatal-infantile seizures.

PMID 11371648 2001 A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

PMID 17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.