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

Axonal function in a family with episodic ataxia type 2 due to a novel mutation.

Journal of neurology - 1 May 2008

Krishnan Arun V, Bostock Hugh, Ip Jerome, Hayes Michael, Watson Shaun, Kiernan Matthew C

Abstract excerpt

Episodic ataxia type 2(EA-2) is a rare, autosomal dominant disorder characterised by recurrent episodes of ataxia and dysarthria,due to mutations in the CACNA1A gene on chromosome 19 encoding voltage-dependent Ca2+ channels. The aim of the present study was to explore whether axonal membrane prop...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Axons
Share to Calcium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrodiagnosis

Share to Mass Screening

Share to Membrane Potentials

Share to Nervous System

Share to Neural Conduction

Source

Identifiers

PMID: 18338196
DOI: 10.1007/s00415-008-0794-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18338196-2026-09-02.2. 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

Axonal function in a family with episodic ataxia type 2 due to a novel mutation.PMID 18338196Read ↗

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.Semantic proximity Read ↗

Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.Semantic proximity Read ↗

The inherited episodic ataxias: how well do we understand the disease mechanisms?Semantic proximity Read ↗

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

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmissionSemantic proximity Read ↗

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

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.Semantic proximity Read ↗

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.Semantic proximity Read ↗

Episodic ataxia type 2.Semantic proximity Read ↗

Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability.Semantic proximity Read ↗

Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.Semantic proximity Read ↗

Misleading EEG in CACNA1A mutation: A case of late-onset episodic ataxia type 2.Semantic proximity Read ↗

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