Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 CausalMutation disease CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 CausalMutation disease CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 CausalMutation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 CausalMutation disease CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 CausalMutation disease CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT A case of recurrent encephalopathy with SCN2A missense mutation. 25457084 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 CausalMutation disease CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. 25459969 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation disease UNIPROT Confirming an expanded spectrum of SCN2A mutations: a case series. 24659627 2014