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 GeneticVariation disease UNIPROT Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 12821740 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 16122630 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 16458823 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 16210358 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). 20110217 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. 20452746 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 14504318 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. 17507202 2007
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease GENOMICS_ENGLAND Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 19332696 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease MGD Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. 29329111 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease MGD Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 22914087 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease GENOMICS_ENGLAND