Disease: SCN8A-related epilepsy with encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 26900580 2016
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Autosomal dominant SCN8A mutation with an unusually mild phenotype. 27210545 2016
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044 2015
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT The phenotypic spectrum of SCN8A encephalopathy. 25568300 2015
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782 2015
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894 2014
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25239001 2014
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT 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: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546 2014
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		C 0.800 CausalMutation CLINVAR Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 24888894 2014
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		0.800 GeneticVariation UNIPROT De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 22365152 2012