Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

De Fusco, Maurizio; Marconi, Roberto; Silvestri, Laura; Atorino, Luigia; Rampoldi, Luca; Morgante, Letterio; Ballabio, Andrea; Aridon, Paolo; Casari, Giorgio

De Fusco, Maurizio; Marconi, Roberto; Silvestri, Laura; Atorino, Luigia; Rampoldi, Luca; Morgante, Letterio; Ballabio, Andrea; Aridon, Paolo; Casari, Giorgio.

Affiliation

De Fusco M; Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.

Nat Genet ; 33(2): 192-6, 2003 Feb.

Article in En | MEDLINE | ID: mdl-12539047

Subject(s)

Migraine with Aura/enzymology; Migraine with Aura/genetics; Mutation; Sodium-Potassium-Exchanging ATPase/genetics; Animals; Base Sequence; COS Cells; Calcium Channels/genetics; Case-Control Studies; Cell Survival/drug effects; Chlorocebus aethiops; Chromatography, High Pressure Liquid; Chromosomes, Human, Pair 1/genetics; Drug Resistance; Enzyme Inhibitors/pharmacology; Female; Haploidy; HeLa Cells; Humans; Male; Molecular Sequence Data; Mutagenesis, Site-Directed; Ouabain/pharmacology; Pedigree; Peptide Fragments; Sodium-Potassium-Exchanging ATPase/metabolism; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Sodium-Potassium-Exchanging ATPase / Migraine with Aura / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2003 Type: Article Affiliation country: Italy

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