Disease: Early Infantile Epileptic Encephalopathy 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		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: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. 24168886 2014
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154 2012
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 21703448 2011
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). 20729507 2010
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430 2010
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458 2010
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081 2009
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		T 0.800 CausalMutation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. 17507202 2007