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Article

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

Developmental medicine and child neurology - 1 Jun 2016

Tantsis Esther M, Gill Deepak, Griffiths Lyn, Gupta Sachin, Lawson John, Maksemous Neven, Ouvrier Robert, Riant Florence, Smith Robert, Troedson Christopher, Webster Richard, Menezes Manoj P

Abstract excerpt

AIM: The alpha-1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) in adults. There are reports of children with CACAN1A mutations presenting with paroxysmal tonic upgaze, abnormal saccades and congenital nystagmus as...

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Identifiers

PMID: 26814174
DOI: 10.1111/dmcn.13033

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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.

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