Imbrici, P. ; Eunson, L. H. ; Graves, T. D. ; Bhatia, K. P. ; Wadia, N. H. ; Kullmann, D. M. ; Hanna, M. G. (2005) Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A Neurology, 65 (6). pp. 944-946. ISSN 0028-3878
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Official URL: http://www.neurology.org/content/65/6/944.short
Related URL: http://dx.doi.org/10.1212/01.wnl.0000176069.64200.28
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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Lippincott Williams and Wilkins. |
| ID Code: | 56988 |
| Deposited On: | 25 Aug 2011 13:10 |
| Last Modified: | 25 Aug 2011 13:10 |
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