Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype.

Neuroscience - 20 May 2017

Evely Katherine M, Pryce Kerri D, Bhattacharjee Arin

Abstract excerpt

Sodium-activated potassium (KNa) channels contribute to firing frequency adaptation and slow after hyperpolarization. The KCNT1 gene (also known as SLACK) encodes a KNa subunit that is expressed throughout the central and peripheral nervous systems. Missense mutations of the SLACK C-terminus have been reported in several patients with rare forms of early onset epilepsy and in some cases severely delayed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CHO Cells
Share to Cricetulus
Share to Epilepsy, Frontal Lobe

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukoencephalopathies

Share to Nerve Tissue Proteins

Share to Potassium Channels

Share to Potassium Channels, Sodium-Activated

Source

Open in PubMed Open full text

Identifiers

PMID: 28366665
DOI: 10.1016/j.neuroscience.2017.03.035
PMCID: PMC5479566

Genes

KCNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype.PMID 28366665Read ↗

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.Semantic proximity Read ↗

Disease-causing Slack potassium channel mutations produce opposite effects on excitability of excitatory and inhibitory neuronsSemantic proximity Read ↗

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.Semantic proximity Read ↗

Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.Semantic proximity Read ↗

The Functional Properties, Physiological Roles, Channelopathy and Pharmacological Characteristics of the Slack (KCNT1) Channel.Semantic proximity Read ↗

Carvedilol inhibits neuronal hyperexcitability caused by epilepsy-associated KCNT1 mutations.Semantic proximity Read ↗

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.Semantic proximity Read ↗

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.Semantic proximity Read ↗

Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms.Semantic proximity Read ↗

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.Semantic proximity Read ↗

Disease-causing Slack potassium channel mutations produce opposite effects on excitability of excitatory and inhibitory neurons.Semantic proximity Read ↗

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.