Gene: SCN2A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 29844171 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. 29625812 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT A case of recurrent encephalopathy with SCN2A missense mutation. 25457084 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. 25459969 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. 24579881 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Confirming an expanded spectrum of SCN2A mutations: a case series. 24659627 2014