title: Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
abstract: A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.
authors.affiliation: Department of Applied Physiology, Ulm University, Germany. karin.jurkat-rott@medizin.uni-ulm.de
authors.forename: K
authors.initials: K
authors.lastname: Jurkat-Rott
authors.forename: T
authors.initials: T
authors.lastname: Freilinger
authors.forename: J P
authors.initials: JP
authors.lastname: Dreier
authors.forename: J
authors.initials: J
authors.lastname: Herzog
authors.forename: H
authors.initials: H
authors.lastname: Göbel
authors.forename: G C
authors.initials: GC
authors.lastname: Petzold
authors.forename: P
authors.initials: P
authors.lastname: Montagna
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: F
authors.initials: F
authors.lastname: Lehmann-Horn
authors.forename: M
authors.initials: M
authors.lastname: Dichgans
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D003128:Coma / Q000235:genetics; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006429:Hemiplegia / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000201:enzymology / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D019683:Penetrance; D010641:Phenotype; D017354:Point Mutation; D012008:Recurrence; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D000254:Sodium-Potassium-Exchanging ATPase / Q000737:chemistry / Q000235:genetics* / Q000502:physiology
chemical_list: D000254:Sodium-Potassium-Exchanging ATPase