The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature

Authors


Dr Severine Debiais, Department of Neurology, CHRU Tours, 2 boulevard Tonnelle, Tours 37000, France. Tel. + 02-4747-8024, fax + 02-4747-8281, e-mail sev.debiais@wanadoo.fr, debiais@med.univ-tours.fr

Abstract

Debiais S, Hommet C, Bonnaud I, Barthez MA, Rimbaux S, Riant F & Autret A. The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature. Cephalalgia 2009. London. ISSN 0333-1024

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura that is characterized by motor weakness during attacks. FHM1 is associated with mutations in the CACNA1A gene located on chromosome 19. We report a severe, prolonged HM attack in a young pregnant patient who had the S218L FHM1. This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma. The case history we report suggests a specific, severe phenotype and the co-occurrence of HM and epilepsy related to the S218L FHM1 mutation.

Ancillary