Daily Archives: April 11, 2015

CACNA1 – Epilepsy and Autism

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. http://www.ncbi.nlm.nih.gov/pubmed/25735478 ¬†Abstract CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A … Continue reading

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