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

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jun 2022

Xu Yinghui, Wang Zhiqin, Sun Qiying, Zhou Lin, Xu Hongwei, Hu Yacen

Abstract excerpt

Episodic ataxia (EA) is a group of disorders characterized by recurrent spells of vertigo, truncal ataxia, and dysarthria. Episodic ataxia type 2 (EA2), the most common subtype of EA, is an autosomal dominant disease caused by mutation of the CACNA1A gene. EA2 has been rarely reported in the Chinese population. Here we present an EA2 family admitted to Xiangya Hospital in October 2018. The proband was a...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Calcium Channels

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Nystagmus, Pathologic

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 35837781
DOI: 10.11817/j.issn.1672-7347.2022.210650
PMCID: PMC10930023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2.PMID 35837781Read ↗

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

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.Semantic proximity Read ↗

Large CACNA1A deletion in a family with episodic ataxia type 2.Semantic proximity Read ↗

A case of novel CACNA1A mutation causing type 2 episodic ataxia.Semantic proximity Read ↗

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxiaSemantic proximity Read ↗

Missense CACNA1A mutation causing episodic ataxia type 2.Semantic proximity Read ↗

Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases.Semantic proximity Read ↗

Phenotypic variability of episodic ataxia type 2 mutations: a family study.Semantic proximity Read ↗

Episodic ataxias.Semantic proximity Read ↗

[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients].Semantic proximity Read ↗

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.Semantic proximity Read ↗

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.Semantic proximity Read ↗

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