Gene: SCN8A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy. 26220391 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 Biomarker group BEFREE Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. 16236810 2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR A novel, abundant sodium channel expressed in neurons and glia. 7751906 1995
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. 26029160 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810 2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 GeneticVariation group BEFREE Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. 29432985 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Loss-of-function variants of SCN8A in intellectual disability without seizures. 28702509 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. 9828131 1998
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 Biomarker group BEFREE Mutations in SCN8A are associated with cognitive deficits and neuropsychiatric illness in humans and movement disorders in mice; however, a role for SCN8A (Na(v)1.6) in epilepsy has not been investigated. 17881658 2007
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR SCN8A encephalopathy: Research progress and prospects. 27270488 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 Biomarker group BEFREE SCN8A can be considered as a candidate gene for isolated movement disorders without seizures. 29726066 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. 9295353 1997
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795 2010
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26252990 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25239001 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 22365152 2012
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 26900580 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.150 CausalMutation group CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894 2014