Familial basilar migraine associated with a new mutation in the ATP1A2 gene.
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.
Ambrosini
A
A
Headache Clinic, INM Neuromed, Pozzilli, Italy. anna.ambrosini@neuromed.it
D'Onofrio
M
M
Grieco
G S
GS
Di Mambro
A
A
Montagna
G
G
Fortini
D
D
Nicoletti
F
F
Nappi
G
G
Sances
G
G
Schoenen
J
J
Buzzi
M G
MG
Santorelli
F M
FM
Pierelli
F
F
D000293:Adolescent; D000368:Aged; D001921:Brain / Q000098:blood supply / Q000378:metabolism / Q000503:physiopathology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase