Gene: SCN8A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR A novel, abundant sodium channel expressed in neurons and glia. 7751906

1995
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR A novel, abundant sodium channel expressed in neurons and glia. 7751906

1995
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. 9295353

1997
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. 9295353

1997
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. 9828131

1998
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. 9828131

1998
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system. 10745221

2000
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system. 10745221

2000
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810

2006
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810

2006
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 22365152

2012
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 22365152

2012
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. 24352161

2014
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546

2014
dbSNP: rs1555230924
rs1555230924
SCN8A
A 0.700 CausalMutation CLINVAR Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25239001

2014
dbSNP: rs869312966
rs869312966
SCN8A
T 0.700 CausalMutation CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546

2014