Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Early clinical features in Dravet syndrome patients with and without SCN1A mutations. 22071555 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Epilepsy: clinical observations and novel mechanisms. 17166794 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 12566275 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421 2004
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 16713920 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. 15277629 2004
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 16458823 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. 24168886 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 21703448 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease 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
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774 2010
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Parental SCN1A mutation mosaicism in familial Dravet syndrome. 19673951 2009
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001