KCNT1

Official Full Name

potassium sodium-activated channel subfamily T member 1

Organism

Homo sapiens

Gene ID

57582

Background

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. [provided by RefSeq, Dec 2012]

Synonyms

DEE14; ENFL5; SLACK; EIEE14; KCa4.1; Slo2.2; bA100C15.2

Cat.No.	Product Name	Price
CSC-DC008007	Panoply™ Human KCNT1 Knockdown Stable Cell Line	Inquiry
CSC-SC008007	Panoply™ Human KCNT1 Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD08465Z	Human KCNT1 adenoviral particles	Inquiry
LV16063L	human KCNT1 (NM_020822) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHH323751	shRNA set against Human KCNT1 (NM_020822.2)	Inquiry
SHH323755	shRNA set against Mouse KCNT1 (NM_175462.3)	Inquiry
SHH323759	shRNA set against Rat KCNT1 (NM_021853.1)	Inquiry
SHL192198	shRNA set against Rat Kcnt1(NM_021853.1)	Inquiry
SHL192548	shRNA set against Mouse Kcnt1(NM_175462.3)	Inquiry
SHW005074	shRNA set against Chicken KCNT1 (NM_204562)	Inquiry

Cat.No.	Product Name	Price
CDFG019735	Mouse Kcnt1 cDNA Clone(NM_001145403.1)	Inquiry
CDFL006483	Mouse Kcnt1 cDNA Clone(NM_175462.3)	Inquiry
CDFR011789	Rat Kcnt1 cDNA Clone(NM_021853.1)	Inquiry
MiUTR1M-06274	KCNT1 miRNA 3'UTR clone	Inquiry
MiUTR3H-09806	KCNT1 miRNA 3'UTR clone	Inquiry
CDCB166549	Chicken KCNT1 ORF Clone (NM_204562)	Inquiry
CDCL123367	Mouse KCNT1 ORF clone (NM_020822.2)	Inquiry
CDCL123369	Human Kcnt1 ORF clone (NM_001145403.1)	Inquiry
CDCL123371	Human Kcnt1 ORF clone (NM_175462.3)	Inquiry
CDCR378847	Rat Kcnt1 ORF Clone(NM_021853.1)	Inquiry

Detailed Information

Recent Research

KCNT1 encodes a sodium-gated potassium channel subunit. It is a member of the Slo-type subfamily (Slo2.2) of potassium channel genes, also known as Slack (sequence like a calcium activated potassium channel), and coassembles with other Slo channel subunits. KCNT1 channels play an important role in regulating excitability in neurons and they are highly expressed in many regions of the mammalian brain, including the cerebral cortex, hippocampus, deep cerebellar nuclei, cerebellar Purkinje cells, reticular tegmental nucleus of the pons, preoptic nucleus and so on, which is consistent with its role in the pathogenesis of some rare epileptic syndromes. It is stimulated by depolarization to produce a slow current followed by repeated neuronal discharges.

It is reported that KCNT1 can regulate the hyperpolarization that follows repetitive firing. The C-terminal cytoplasmic domain of KCNT1 interacts with a protein network, including the Fragile X mental retardation protein. Functional studies have shown that mutations in the cytoplasmic C-terminal domain lead to constitutive activation of the channel, which is predicted to disrupt normal neuronal firing and directly lead to epileptogenesis.

Some reports have shown that heterozygous KCNT1 mutations in a severe form of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in which a significant proportion of individuals have comorbidities of intellectual disability (ID), psychiatric features, and refractory seizures. One study has shown that heterozygous KCNT1 mutations are linked not only to epileptic activity in these severe epilepsies (malignant migrating partial seizures of infancy (MMPSI), but also to the brain development protein cascade. KCNT1 mutations are also related to cerebellar ataxia, intellectual disability, temporal lobe epilepsy (TLE), and intellectual disability with early-adulthood onset being associated. Furthermore, KCNT1 may not only be related with the susceptibility of genetic generalized epilepsies (GGEs), but also related with the efficacy of anti-epileptic drugs. Approximately, one third of epileptic patients do not respond to antiepileptic drugs (AEDs) and it has been hypothesized due to polymorphisms in brain targets of AEDs, drug efflux transporters, drug metabolism, and elimination related genes.

References:

Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia, 2015, 56(9):e114-e120.
Shimada S, et al. A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. Human Genome Variation, 2014, 1:14027.
Milligan C, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Annals of Neurology, 2014, 75(4):581-590.

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