Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401736
rs1135401736
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.020 GeneticVariation BEFREE Approximately 80% of patients with Dravet syndrome have been associated with heterozygous mutations in SCN1A gene encoding voltage-gated sodium channel (VGSC) α(I) subunit, whereas a homozygous mutation (p.Arg125Cys) of SCN1B gene encoding VGSC β(I) subunit was recently described in a patient with Dravet syndrome. 23148524 2012
dbSNP: rs1135401736
rs1135401736
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.020 GeneticVariation BEFREE We conclude that SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation. 19710327 2009