Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
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.
Jurkat-Rott
K
K
Department of Applied Physiology, Ulm University, Germany. karin.jurkat-rott@medizin.uni-ulm.de
Freilinger
T
T
Dreier
J P
JP
Herzog
J
J
Göbel
H
H
Petzold
G C
GC
Montagna
P
P
Gasser
T
T
Lehmann-Horn
F
F
Dichgans
M
M
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
D000254:Sodium-Potassium-Exchanging ATPase