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

Detection of a novel mutation in the CACNA1A gene.

Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Feb 2012

Stuart Shani, Roy Bishakha, Davies Gail, Maksemous Nevene, Smith Robert, Griffiths Lyn R

Abstract excerpt

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. It is divided into three subtypes FHM1, FHM2 and FHM3, which are caused by mutations in the CACNA1A, ATP1A2 and SCN1A genes respectively. As part of a regular diagnostic service, we investigated 168 patients with FHM symptoms. Samples were tested for mutations contained within the CACNA1A gene. Some tested samples...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Calcium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genes, Dominant

Share to Infant

Share to Migraine with Aura

Source

Identifiers

PMID: 22784462
DOI: 10.1375/twin.15.1.120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of a novel mutation in the CACNA1A gene.PMID 22784462Read ↗

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.Semantic proximity Read ↗

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.Semantic proximity Read ↗

Two novel SCN1A mutations identified in families with familial hemiplegic migraine.Semantic proximity Read ↗

New CACNA1A deletions are associated to migraine phenotypes.Semantic proximity Read ↗

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.Semantic proximity Read ↗

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.Semantic proximity Read ↗

Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic SyndromesSemantic proximity Read ↗

ATP1A2 mutations in 11 families with familial hemiplegic migraine.Semantic proximity Read ↗

Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.Semantic proximity Read ↗

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation.Semantic proximity Read ↗

Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraineSemantic proximity Read ↗

Genetics of migraine: an update with special attention to genetic comorbidity.Semantic proximity Read ↗

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