A case of familial hemiplegic migraine associated with a novel ATP1A2 gene mutation.

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.

De Cunto A ，Bensa M ，Tonelli A 《-》

Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.

Hemiplegic migraine is a rare form of migraine characterized by periodic attacks of migraine with neurologic aura and transient hemiplegia. There are familial and sporadic cases, both on a genetic basis; we describe the case of a 6-year-old boy affected by sporadic hemiplegic migraine, showing a novel ATP1A2 gene missense mutation (p.Gly715Arg) in exon 16. Long-term treatment with flunarizine resulted in good clinical response and prevention of further attacks.

De Sanctis S ，Grieco GS ，Breda L ，Casali C ，Nozzi M ，Del Torto M ，Chiarelli F ，Verrotti A ... -  《-》

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.

Tonelli A ，Gallanti A ，Bersano A ，Cardin V ，Ballabio E ，Airoldi G ，Redaelli F ，Candelise L ，Bresolin N ，Bassi MT ... -  《CLINICAL GENETICS》

Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene.

Roth C ，Freilinger T ，Kirovski G ，Dunkel J ，Shah Y ，Wilken B ，Rautenstrauß B ，Ferbert A ... -  《-》

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

Vanmolkot KR ，Stam AH ，Raman A ，Koenderink JB ，de Vries B ，van den Boogerd EH ，van Vark J ，van den Heuvel JJ ，Bajaj N ，Terwindt GM ，Haan J ，Frants RR ，Ferrari MD ，van den Maagdenberg AM ... -  《EUROPEAN JOURNAL OF HUMAN GENETICS》