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 mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Brain : a journal of neurology - 1 May 1999

Zuberi S M, Eunson L H, Spauschus A, De Silva R, Tolmie J, Wood N W, McWilliam R C, Stephenson J B, Stephenson J P, Kullmann D M, Hanna M G

Abstract excerpt

Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p13 have recently been shown to associate with EA...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Electromyography
Share to Epilepsies, Partial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion Channel Gating

Share to Kv1.1 Potassium Channel

Share to Periodicity

Share to Potassium Channels

Share to Potassium Channels, Voltage-Gated

Source

Identifiers

PMID: 10355668
DOI: 10.1093/brain/122.5.817

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10355668-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.PMID 10355668Read ↗

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.Semantic proximity Read ↗

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

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

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.Semantic proximity Read ↗

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.Semantic proximity Read ↗

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

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

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.Semantic proximity Read ↗

Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.Semantic proximity Read ↗

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.Semantic proximity Read ↗

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.Semantic proximity Read ↗

Episodic ataxias.Semantic proximity Read ↗

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