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Familial basilar migraine associated with a new mutation in the ATP1A2 gene

From the Headache Clinic, INM Neuromed (Drs. Ambrosini and Pierelli), Neuropharmacology Unit, INM Neuromed–Research Center (Drs. D’Onofrio and Nicoletti, Ms. Di Mambro), Pozzilli (Isernia), Italy; European Brain Research Institute, Rome, Italy (Dr. D’Onofrio); Molecular Neurogenetics, IRCCS C. Mondino, Rome, Italy (Drs. Grieco and Fortini); Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy (Ms. Montagna and Dr. Santorelli); Department of Human Physiology and Pharmacology (Dr. Nicoletti), Department of Neurology and ORL, University Center for Adaptive Disorders and Headache (Drs. Nappi and Pierelli), University of Rome "La Sapienza," Rome, Italy; IRCCS C. Mondino, University Center for Adaptive Disorders and Headache, Pavia, Italy (Drs. Nappi and Sances); Headache Research Unit, Departments of Neurology and Neuroanatomy, University of Liège, Liège, Belgium (Dr. Schoenen); and IRCCS Santa Lucia Foundation, Rome, Italy (Dr. Buzzi).

Address correspondence and reprint requests to Dr. Anna Ambrosini, Headache Clinic, INM Neuromed, Via Atinense 18, I-86077 Pozzilli (Isernia), Italy; e-mail: anna.ambrosini{at}neuromed.it or ambrosinia{at}tiscali.it

Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.

* These authors contributed equally to this work.

Supported in part by a bilateral scientific cooperation project between Italy and the French Community of Belgium, by grants from MIUR (ex-40% Cofinanziamento 2001 and ex-60%), and by the Italian Ministry of Health (Ricerca Corrente). A.A. is the recipient of the IHS-GSK Pat Humphrey Research Fellowship 2002.

Disclosure: The authors report no conflicts of interest.

Received February 22, 2005. Accepted in final form August 22, 2005.

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