Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene.
BACKGROUND
Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterized by attacks of hemiplegia and mental retardation. It has been often associated with migraine. The CACNA1A gene on chromosome 19 is involved in familial hemiplegic migraine and other episodic cerebral disorders, but also with progressive neuronal damage.


METHODS
We performed mutation analysis in this gene in four AHC patients, using single strand conformation polymorphism analysis.


RESULTS
We found nine polymorphisms, but no mutations in any of the 47 exons.


CONCLUSIONS
Other cerebral ion channel genes remain candidate genes for AHC.
Haan
J
J
Department of Neurology, Leiden University Medical Centre, The Netherlands.
Kors
E E
EE
Terwindt
G M
GM
Vermeulen
F L
FL
Vergouwe
M N
MN
van den Maagdenberg
A M
AM
Gill
D S
DS
Pascual
J
J
Ophoff
R A
RA
Frants
R R
RR
Ferrari
D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006429:Hemiplegia / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type