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| Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 |
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| Author(s): Ophoff RA, Terwindt GM, Vergouwe MN, vanEijk R, Oefner PJ, Hoffman SMG, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, vanOmmen GJB, Hofker MH, Ferrari MD, Frants RR |
| Source: CELL Volume: 87 Issue: 3 Pages: 543-552 Published: NOV 1 1996 |
| Times Cited: 1,131 References: 49 |
| Abstract: Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca2+ channel alpha 1-subunit gene, CACNL1A4, covering 300 kb with 47 exons. Sequencing of all exons and their surroundings revealed polymorphic variations, including a (CA)(n)-repeat (D19S1150), a (CAG)(n)-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2. In FHM, we found four different missense mutations in conserved functional domains. One mutation has occurred on two different haplotypes in unrelated FHM families. In EA-2, we found two mutations disrupting the reading frame. Thus, FHM and EA-2 can be considered as allelic channelopathies. A similar etiology may be involved in common types of migraine. |
| Document Type: Article |
| Language: English |
| Reprint Address: Ophoff, RA (reprint author), LEIDEN UNIV, MGC, DEPT HUMAN GENET, SYLVIUS LAB, WASSENAARSEWEG 72, NL-2333 AL LEIDEN, NETHERLANDS |
Addresses:
1. LEIDEN UNIV HOSP, DEPT NEUROL, NL-2333 AL LEIDEN, NETHERLANDS
2. STANFORD UNIV, DEPT GENET, STANFORD, CA 94305 USA
3. LAWRENCE LIVERMORE NATL LAB, BBRP, LIVERMORE, CA 94550 USA
4. LONDON HLTH SCI CTR, DEPT CLIN NEUROL SCI, LONDON, ON N6A 5A5 CANADA
5. IRCCS S RAFFAELE, CLIN MOL BIOL LAB, I-20132 MILAN, ITALY
6. ERASMUS UNIV ROTTERDAM, MGC, DEPT CLIN GENET, NL-3000 DR ROTTERDAM, NETHERLANDS |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: VQ466 |
| ISSN: 0092-8674 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |