Disease: Idiopathic generalized epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559144583
rs1559144583
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0270850
Disease:
Idiopathic generalized epilepsy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs796053048
rs796053048
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0270850
Disease:
Idiopathic generalized epilepsy 		0.010 GeneticVariation BEFREE The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. 31720899 2020
dbSNP: rs121918771
rs121918771
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C0270850
Disease:
Idiopathic generalized epilepsy 		0.010 GeneticVariation BEFREE By mutation screening of the SCN1A gene, we identified for the first time a case of two missense mutations in cis (p.[Arg1525Gln;Thr297Ile]) in all affected individuals of an Italian family showing GEFS+ and idiopathic generalized epilepsy (IGE). 28951233 2017