A novel ATP1A2 mutation in a family with FHM type II.
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.
Pierelli
F
F
Department of Neurology and ORL, University Centre for Adaptive Disorders and Headache (UCADH), La Sapienza University, Rome.
Grieco
G S
GS
Pauri
F
F
Pirro
C
C
Fiermonte
G
G
Ambrosini
A
A
Costa
A
A
Buzzi
M G
MG
Valoppi
M
M
Caltagirone
C
C
Nappi
G
G
Santorelli
F M
FM
D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051381:Rats; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase