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  • Title: Stepwise developmental regression associated with novel CACNA1A mutation.
    Author: Guerin AA, Feigenbaum A, Donner EJ, Yoon G.
    Journal: Pediatr Neurol; 2008 Nov; 39(5):363-4. PubMed ID: 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.
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