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

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Movement disorders : official journal of the Movement Disorder Society - 15 Apr 2009

Demos Michelle K, Macri Vincenzo, Farrell Kevin, Nelson Tanya N, Chapman Kristine, Accili Eric, Armstrong Linlea

Abstract excerpt

Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage-gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent cerebellar dys...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Diseases
Share to CHO Cells
Share to Cricetinae

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cricetulus

Share to Kv1.1 Potassium Channel

Share to Leucine

Share to Membrane Potentials

Share to Valine

Source

Identifiers

PMID: 19205071
DOI: 10.1002/mds.22467

Genes

KCNA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19205071-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.PMID 19205071Read ↗

A novel mutation in KCNA1 causes episodic ataxia without myokymiaSemantic proximity Read ↗

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

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

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

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.Semantic proximity Read ↗

Episodic ataxias.Semantic proximity Read ↗

Episodic ataxia type 1: a neuronal potassium channelopathy.Semantic proximity Read ↗

A novel KCNA1 mutation causing episodic ataxia type I.Semantic proximity Read ↗

Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.Semantic proximity Read ↗

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.Semantic proximity Read ↗

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.Semantic proximity Read ↗

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2.Semantic proximity Read ↗

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