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NEUROLOGY 2004;62:1857-1861
© 2004 American Academy of Neurology
Brief Communications

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

K. Jurkat-Rott, MD, T. Freilinger, MD, J. P. Dreier, MD, J. Herzog, MD, H. Göbel, MD, G. C. Petzold, MD, P. Montagna, MD, T. Gasser, MD, F. Lehmann-Horn, MD and M. Dichgans, MD

From the Department of Applied Physiology (Drs. Jurkat–Rott and Lehmann–Horn), Ulm University; Department of Neurology (Drs. Freilinger, Herzog, and Dichgans), Klinikum Großhadern, Ludwig-Maximilians-Universität, München; Department of Neurology (Drs. Dreier and Petzold), Charité, Humboldt-Universität, Berlin; Department of Neurology (Dr. Göbel), Christian-Albrechts-Universität, Kiel; and Hertie Institute for Clinical Brain Research (Dr. Gasser), Department of Neurology, Universität Tübingen, Germany; and Department of Neurological Sciences (Dr. Montagna), Bologna University, Italy.

Address correspondence and reprint requests to Dr. K. Jurkat–Rott, Angewandte Physiologie, Universität Ulm, Albert-Einstein-Allee 11, D-89069 Ulm, Germany; e-mail: karin.jurkat-rott{at}medizin.uni-ulm.de

A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.

Received October 10, 2003. Accepted in final form March 8, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 25 issue to find the title link for this article.

Drs. Jurkat–Rott and Freilinger contributed equally to this manuscript.




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