Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Loss-of-function variants of SCN8A in intellectual disability without seizures. 28702509

2017

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014

2016

dbSNP: rs869312966
rs869312966
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: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR SCN8A encephalopathy: Research progress and prospects. 27270488

2016

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26252990

2016

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 26900580

2016

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2015

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. 25799905

2015

dbSNP: rs869312966
rs869312966
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: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782

2015

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. 26029160

2015

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy. 26220391

2015

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25239001

2014

dbSNP: rs869312966
rs869312966
T 0.700 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894

2014

dbSNP: rs869312966
rs869312966
T 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: rs869312966
rs869312966
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

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

2013

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

2013

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

2000

dbSNP: rs869312966
rs869312966
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: rs869312966
rs869312966
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