Gene: SCN8A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Loss-of-function variants of SCN8A in intellectual disability without seizures. 28702509

2017
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Loss-of-function variants of SCN8A in intellectual disability without seizures. 28702509

2017
dbSNP: rs587780586
rs587780586
SCN8A
A 0.700 CausalMutation CLINVAR Loss-of-function variants of SCN8A in intellectual disability without seizures. 28702509

2017
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR SCN8A encephalopathy: Research progress and prospects. 27270488

2016
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 26900580

2016
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014

2016
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26252990

2016
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 26900580

2016
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR SCN8A encephalopathy: Research progress and prospects. 27270488

2016
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26252990

2016
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014

2016
dbSNP: rs587780586
rs587780586
SCN8A
A 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs587780586
rs587780586
SCN8A
A 0.700 CausalMutation CLINVAR Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26252990

2016
dbSNP: rs587780586
rs587780586
SCN8A
A 0.700 CausalMutation CLINVAR Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 26900580

2016
dbSNP: rs587780586
rs587780586
SCN8A
A 0.700 CausalMutation CLINVAR SCN8A encephalopathy: Research progress and prospects. 27270488

2016
dbSNP: rs587780586
rs587780586
SCN8A
A 0.700 CausalMutation CLINVAR Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014

2016
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2015
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044

2015
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. 25799905

2015
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy. 26220391

2015
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782

2015
dbSNP: rs1555226081
rs1555226081
SCN8A
T 0.700 CausalMutation CLINVAR Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. 26029160

2015
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782

2015