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Article

The complexities of CACNA1A in clinical neurogenetics.

Journal of neurology - 1 Jun 2022

Hommersom Marina P, van Prooije Teije H, Pennings Maartje, Schouten Meyke I, van Bokhoven Hans, Kamsteeg Erik-Jan, van de Warrenburg Bart P C

Abstract excerpt

Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been associated with a broader spectrum of phenotypes. Targeted analysis and unbiased sequencing of CACNA1A result not only in clear molecular diagnoses, but also in large numbers of variants of uncertain significance (VUS), or likely pathogenic...

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Source

Identifiers

PMID: 34806130
DOI: 10.1007/s00415-021-10897-9

Genes

CACNA1A

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.

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The complexities of CACNA1A in clinical neurogenetics.PMID 34806130Read ↗

Clinical and genetic characterization of CACNA1A ‐related diseaseSemantic proximity Read ↗

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From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation SequencingSemantic proximity Read ↗

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of PhenotypesSemantic proximity Read ↗

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.Semantic proximity Read ↗

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.Semantic proximity Read ↗

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