NDLI: Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

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Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Content Provider	Semantic Scholar
Author	Ophoff, Roel A. Terwindt, Gisela M. Vergouwe, Monique N. Eijk, Ronald Van Oefner, Peter J. Hoffman, S. M. Lamerdin, Jane E. Mohrenweiser, Harvey W. Bulman, Dennis E. Ferrari, Maurizio Haan, Joost Lindhout, Dick Ommen, Gert-Jan B. Van Hofker, Marten H. Ferrari, Michel D. Frants, Rune R.
Copyright Year	1996
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 alpha1-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.
Starting Page	543
Ending Page	552
Page Count	10
File Format	PDF HTM / HTML
DOI	10.1016/S0092-8674(00)81373-2
PubMed reference number	8898206
Journal	Medline
Volume Number	87
Alternate Webpage(s)	https://repub.eur.nl/pub/57576/1-s2.0-S0092867400813732-main.pdf
Alternate Webpage(s)	https://api.elsevier.com/content/article/pii/S0092867400813732
Alternate Webpage(s)	https://www.sciencedirect.com/science/article/pii/S0092867400813732
Alternate Webpage(s)	https://doi.org/10.1016/S0092-8674%2800%2981373-2
Journal	Cell
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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