Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2.
Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been associated with migraine. Previously, we have excluded the involvement of the familial hemiplegic migraine (FHM) CACNA1A gene in four patients with AHC. A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase. We performed a mutation analysis of the ATP1A2 gene in six patients, using direct sequencing, but found no mutations in any of the 23 exons. Other cerebral ion channel genes remain candidate genes for AHC.
Kors
E E
EE
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
Vanmolkot
K R J
KR
Haan
J
J
Kheradmand Kia
S
S
Stroink
H
H
Laan
L A E M
LA
Gill
D S
DS
Pascual
J
J
van den Maagdenberg
A M J M
AM
Frants
R R
RR
Ferrari
M D
MD
D000293:Adolescent; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D020325:Migraine with Aura / Q000235:genetics; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase