Imbrici, P;
Eunson, LH;
Graves, TD;
Bhatia, KP;
Wadia, NH;
Kullmann, DM;
Hanna, MG;
(2005)
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
NEUROLOGY
, 65
(6)
944 - 946.
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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