Condition: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
rs397515402 in
KCNT1 gene and
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
PMID 24591078 2014 KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
PMID 23086397 2012 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
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 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
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 26740507 2016 KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
PMID 23086396 2012 Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
PMID 26369628 2015 Quinidine in the treatment of KCNT1-positive epilepsies.
PMID 29186148 2017 A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
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 24029078 2013 A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.
PMID 26597493 2016 Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
rs886043455 in
LOC107987139;KCNT1 gene and
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
PMID 26122718 2015 Mutations in KCNT1 cause a spectrum of focal epilepsies.
PMID 27029629 2016 A targeted resequencing gene panel for focal epilepsy.
PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.