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Article

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

American journal of medical genetics. Part A - 1 Aug 2016

Reinson Karit, Õiglane-Shlik Eve, Talvik Inga, Vaher Ulvi, Õunapuu Anne, Ennok Margus, Teek Rita, Pajusalu Sander, Murumets Ülle, Tomberg Tiiu, Puusepp Sanna, Piirsoo Andres, Reimand Tiia, Õunap Katrin

Abstract excerpt

The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosine-adenine-guanine repeats, are known to cause three allelic autosomal dominant conditions-episodic ataxia type 2, familial hemiplegic migraine type 1, and...

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PMID: 27250579
DOI: 10.1002/ajmg.a.37678

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

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