title: [Phenotypic variability in a family with genetically verified familial hemiplegic migraine type 2].
abstract: After playing handball, a 13-year-old girl developed a comatose condition during 7-10 days with hemiparesis and aphasia. From age three to nine she was treated for partial epilepsy. She never had symptoms of migraine. Her father had childhood epilepsy and at the age of 40 and 44 he experienced two attacks with prolonged coma, fever, seizures, hemiparesis and aphasia. His mother had symptoms of severe hemiplegic migraine. Father and daughter were genetically tested and an earlier described mutation in ATP1A2 gene was found. These cases illustrate the phenotypic variability in familial hemiplegic migraine type 2.
authors.affiliation: Børneafdeling B, Regionshospitalet Viborg, Heibergs Allé 4, 8800 Viborg. nina.hogaard@viborg.rm.dk.
authors.forename: Nina
authors.initials: N
authors.lastname: Hogaard
authors.forename: Henriette
authors.initials: H
authors.lastname: Klit
authors.forename: Ida
authors.initials: I
authors.lastname: Vogel
authors.forename: Thomas
authors.initials: T
authors.lastname: Thelle
mesh_terms: D000293:Adolescent; D000328:Adult; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020325:Migraine with Aura / Q000150:complications / Q000175:diagnosis*; D009154:Mutation; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics
chemical_list: C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase