Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker MGD Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. 29329111

2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625

2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
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
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation 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
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker MGD Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. 24152123

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation 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
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR The SCN1A gene variants and epileptic encephalopathies. 23884151

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. 23086956

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. 22150645

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. 22151702

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker MGD Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 22914087

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Early clinical features in Dravet syndrome patients with and without SCN1A mutations. 22071555

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
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
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation CLINVAR [Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. 21425109

2011