Gene: SCN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053124
rs796053124
SCN2A
T 0.700 CausalMutation CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790

2010
dbSNP: rs17183814
rs17183814
SCN2A
0.020 GeneticVariation BEFREE For SCN2A polymorphism c.56 G > A rs17183814, one hundred patients with epilepsy who were receiving lamotrigine in monotherapy and seventy-one age and sex matched healthy controls were genotyped using TaqMan assay. 31707316

2019
dbSNP: rs17183814
rs17183814
SCN2A
0.020 GeneticVariation BEFREE To evaluate sodium channel genes as candidates for epilepsy susceptibility and their role in therapeutic efficacy, we screened coding single-nucleotide polymorphism of SCN1A p. Thr 1067 Ala or c.3184 A-->G (rs2298771) and SCN2A p.Arg19Lys or c.56 G-->A (rs17183814) in north Indian epilepsy patients. 19694741

2009
dbSNP: rs2304016
rs2304016
SCN2A
0.010 GeneticVariation BEFREE This study identified no significant associations of allelic or genotypic SNPs with the susceptibility of epilepsy and medication response with an exception of rs2304016 and rs2499697 SNPs that were associated with the generalized type of epilepsy among Jordanian population. 31297029

2019
dbSNP: rs370114048
rs370114048
SCN2A
0.010 GeneticVariation BEFREE Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. 26138355

2016
dbSNP: rs796053134
rs796053134
SCN2A
0.010 GeneticVariation BEFREE Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. 26138355

2016
dbSNP: rs797044927
rs797044927
SCN2A
0.010 GeneticVariation BEFREE Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy. 21156207

2011
dbSNP: rs387906683
rs387906683
SCN2A
0.010 GeneticVariation BEFREE The identified de novo mutations SCN2A-E1211K, -I1473M, and -R102X indicate that SCN2A is an etiologic candidate underlying a variety of intractable childhood epilepsies. 19786696

2009
dbSNP: rs982953473
rs982953473
SCN2A
0.010 GeneticVariation BEFREE AG genotype of SCN1A 3184 A-->G polymorphism was significantly higher and associated in epilepsy patients [P= 0.005; odds ratio (OR) 1.76, 95% confidence interval (CI) 1.19, 2.61], whereas A variant of SCN2A c.56 G-->A was associated with multiple drug resistance in north Indian patients with epilepsy (P= 0.03; OR 1.62, 95% CI 1.03, 2.56). 19694741

2009