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

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

Journal of medical genetics - 1 Apr 2001

Scoggan K A, Chandra T, Nelson R, Hahn A F, Bulman D E

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels
Share to Cerebellar Ataxia
Share to DNA
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Pedigree

Share to Polymorphism, Genetic

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 11370629
DOI: 10.1136/jmg.38.4.249
PMCID: PMC1734855

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.PMID 11370629Read ↗

A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.Semantic proximity Read ↗

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

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A geneSemantic proximity Read ↗

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

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.Semantic proximity Read ↗

A novel de novo pathogenic mutation in the CACNA1A gene.Semantic proximity Read ↗

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

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

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

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1Semantic proximity Read ↗

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.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.