Stepwise developmental regression associated with novel CACNA1A mutation
Andrea A Guerin1, Annette Feigenbaum, Elizabeth J Donner
1Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.
Pediatric Neurology
|October 23, 2008
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.
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