The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature.
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.
Departments of Neurology, CHRU Tours, 2 boulevard Tonnelle, Tours 37000, France. sev.debiais@wanadoo.fr
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D015220:Calcium Channels / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D020325:Migraine with Aura / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D011247:Pregnancy; D012720:Severity of Illness Index; D055815:Young Adult; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type