Gene: LOC107987139

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: KCNT1

Alternate names for this Gene: DEE14|EIEE14|ENFL5|KCa4.1|SLACK|Slo2.2|bA100C15.2

Gene Summary: Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: potassium sodium-activated channel subfamily T member 1

Type of Gene: protein-coding

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.

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.