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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6 		G 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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
dbSNP: rs121917971
rs121917971
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 Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021 2011
dbSNP: rs121917971
rs121917971
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 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774 2010
dbSNP: rs121917971
rs121917971
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 Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. 20550552 2010
dbSNP: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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: rs121917971
rs121917971
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 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
dbSNP: rs121917971
rs121917971
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 Epilepsy: clinical observations and novel mechanisms. 17166794 2007
dbSNP: rs121917971
rs121917971
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 The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
dbSNP: rs121917971
rs121917971
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: rs121917971
rs121917971
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 De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 16713920 2006
dbSNP: rs121917971
rs121917971
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 Demystifying vaccination-associated encephalopathy. 16713913 2006
dbSNP: rs121917971
rs121917971
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 missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 16122630 2005