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 		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 		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 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 		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 		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 		0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017