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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A
P Imbrici1, L H Eunson, T D Graves
1Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, United Kingdom.
Abstract:
Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.
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