Referenced in: none

Automatically associated channels: Cav2.1

Title: Stepwise developmental regression associated with novel CACNA1A mutation.

Authors: Andrea A Guerin, Annette Feigenbaum, Elizabeth J Donner, Grace Yoon

Journal, date & volume: Pediatr. Neurol., 2008 Nov , 39, 363-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18940563

Abstract
Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with episodes of seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy. Sequence analysis of the CACNA1A gene revealed a de novo Ile712Val sequence variant, which was not reported previously.