title: A case of familial hemiplegic migraine associated with a novel ATP1A2 gene mutation.
abstract: Hemiplegic migraine constitutes an unusual form, characterized by periodic attacks of migraine with a motor component (hemiplegia). Familial forms are dominantly inherited, and are attributable to mutations in genes encoding proteins involved in ion transportation, including ATP1A2, which codes for the α-2 isoform of the sodium-potassium adenosine triphosphatase, a P-type cation transport adenosine triphosphatase, and responsible for the so-called familial hemiplegic migraine type 2. We describe a 9-year-old boy affected by familial hemiplegic migraine, with a novel ATP1A2 gene mutation (c.1799T>C p.V600A) in exon 13. Long-term treatment with flunarizine resulted in a good clinical response and the prevention of further attacks.
authors: Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, University of Trieste, Trieste, Italy. angela.decunto@libero.it
authors: Angela
authors: A
authors: De Cunto
authors: Marco
authors: M
authors: Bensa
authors: Alessandra
authors: A
authors: Tonelli
mesh_terms: D000595:Amino Acid Sequence; D002675:Child, Preschool; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000175:diagnosis* / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase