Condition: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
rs121917748 in
SCN2A gene and
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
PMID 29844171 2018 Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
PMID 20371507 2010 Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
PMID 30144217 2018 Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
PMID 18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
PMID 23758435 2013 An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
PMID 17021166 2006 Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.
PMID 16417554 2006 A novel SCN2A mutation in family with benign familial infantile seizures.
PMID 12243921 2002 Sodium-channel defects in benign familial neonatal-infantile seizures.
PMID 11371648 2001 A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
PMID 17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
PMID 18479388 2008 We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2.
PMID 18479388 2008 We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2.
PMID 29215089 2018 Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
PMID 18479388 2008 We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2.
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 23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
PMID 29186148 2017 A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PMID 25772804 2015 De novo R853Q mutation of SCN2A gene and West syndrome.
PMID 27867041 2017 Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.