Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
rs370521183 in
KCNT1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 23086397 2012 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
PMID 24029078 2013 A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 24591078 2014 KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
PMID 26122718 2015 Mutations in KCNT1 cause a spectrum of focal epilepsies.
PMID 25482562 2014 Human slack potassium channel mutations increase positive cooperativity between individual channels.
PMID 26140313 2015 De novo KCNT1 mutations in early-onset epileptic encephalopathy.
PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.
PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
PMID 26740507 2016 KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
PMID 26369628 2015 Quinidine in the treatment of KCNT1-positive epilepsies.
PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
PMID 29186148 2017 A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PMID 23086396 2012 Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
PMID 26269628 2015 Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation.
PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
PMID 26597493 2016 Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
rs1424788778 in
LOC107987139;KCNT1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
PMID 24029078 2013 A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 23086397 2012 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
PMID 27029629 2016 A targeted resequencing gene panel for focal epilepsy.
PMID 26122718 2015 Mutations in KCNT1 cause a spectrum of focal epilepsies.
PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.