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Article

Novel CACNA1A mutation(s) associated with slow saccade velocities.

Journal of neurology - 1 Dec 2013

Kipfer Stefan, Jung Simon, Lemke Johannes R, Kipfer-Kauer Anna, Howell Jeremy P, Kaelin-Lang Alain, Nyffeler Thomas, Gutbrod Klemens, Abicht Angela, Müri René M

Abstract excerpt

Mutations in the voltage-gated Cav2.1 P/Q-type calcium channel (CACNA1A) can cause a wide spectrum of phenotypes, including the episodic ataxia type 2. Beside the growing number of descriptions of novel CACNA1A mutations with episodic ataxia type 2 phenotype; there are only rare reports on interictal oculomotor signs other than nystagmus. We describe a novel CACNA1A mutation and an unclassified CACNA1A in-frame...

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Identifiers

PMID: 24046065
DOI: 10.1007/s00415-013-7099-4

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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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