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XB-ART-1318
Neurology 2005 Sep 27;656:944-6. doi: 10.1212/01.wnl.0000176069.64200.28.
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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

Imbrici P , Eunson LH , Graves TD , Bhatia KP , Wadia NH , Kullmann DM , Hanna MG .


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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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Species referenced: Xenopus laevis
Genes referenced: cacna1a