Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089

2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 GeneticVariation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 GeneticVariation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 GeneticVariation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804

2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset. 23360469

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696

2009
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS). 18479388

2008
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.660 CausalMutation CLINVAR SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis. 15048894

2004