Evaluation of CACNA1H in European patients with childhood absence epilepsy.
CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients.
Chioza
Barry
B
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK.
Everett
Kate
K
Aschauer
Harald
H
Brouwer
Oebele
O
Callenbach
Petra
P
Covanis
Athanasios
A
Dulac
Olivier
O
Durner
Martina
M
Eeg-Olofsson
Orvar
O
Feucht
Martha
M
Friis
Mogens
M
Heils
Armin
A
Kjeldsen
Marianne
M
Larsson
Katrin
K
Lehesjoki
Anna-Elina
AE
Nabbout
Rima
R
Olsson
Ingrid
I
Sander
Thomas
T
Sirén
Auli
A
Robinson
Robert
R
Rees
Michele
M
Gardiner
R Mark
RM
D044466:Asian People / Q000235:genetics*; D020747:Calcium Channels, T-Type / Q000235:genetics*; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004832:Epilepsy, Absence / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D018895:Microsatellite Repeats; D010375:Pedigree; D044465:White People / Q000235:genetics*
C479952:CACNA1H protein, human; D020747:Calcium Channels, T-Type; D004247:DNA