Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
rs121917751 in
SCN2A gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
PMID 29215089 2018 Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
PMID 19783390 2009 Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
PMID 25457084 2015 A case of recurrent encephalopathy with SCN2A missense mutation.
PMID 23988467 2013 Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.
PMID 23550958 2013 Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
PMID 24710820 2014 Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
PMID 20956790 2010 SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
PMID 22677033 2012 Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
PMID 25459969 2015 SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
PMID 24659627 2014 Confirming an expanded spectrum of SCN2A mutations: a case series.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 30144217 2018 Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
PMID 30415926 2019 Ketogenic diet as a successful early treatment modality for SCN2A mutation.
PMID 25772804 2015 De novo R853Q mutation of SCN2A gene and West syndrome.
PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
PMID 28379373 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
PMID 19786696 2009 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
PMID 29186148 2017 A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
PMID 27867041 2017 Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.