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

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.

International journal of molecular sciences - 16 May 2023

Paulhus Kelsey, Glasscock Edward

Abstract excerpt

The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel α subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in the KCNA1 gene can cause several neurological diseases and symptoms, such as episodic ataxia type 1 (EA1) and epilepsy, which may occur alone or in combination, making it challenging to establish simple genotype-phenotype correlations....

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Cardiac electrophysiology and arrhythmias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Channelopathies

Share to Epilepsy

Share to Ion channel regulation and function

Share to Kv1.1 Potassium Channel

Share to Mutation

Share to Neurological disorders and treatments

Source

Open in PubMed Open full text

Identifiers

PMID: 37240170
DOI: 10.3390/ijms24108826
PMCID: PMC10219020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.PMID 37240170Read ↗

Novel Genetic Variants Expand the Functional, Molecular and Pathological Diversity of KCNA1 ChannelopathySemantic proximity Read ↗

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.Semantic proximity Read ↗

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.Semantic proximity Read ↗

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.Semantic proximity Read ↗

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.Semantic proximity Read ↗

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.Semantic proximity Read ↗

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

<i>KCNMA1</i> -linked channelopathySemantic proximity Read ↗

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesSemantic proximity Read ↗

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypesSemantic proximity Read ↗

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneSemantic proximity Read ↗

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.Semantic proximity Read ↗

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