[T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy].
OBJECTIVE
Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). It is considered to be a hereditary disease. The possible inheritance pattern of CAE is polygenic. The genes responsible for CAE, however, have not yet been identified. The aim of this study was to further investigate based on the authors' recent work whether or not T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy.


METHODS
The authors conducted the mutation screening of the exons 6-12 and the nearby partial introns of the CACNA1H gene using the method of direct sequencing of PCR products in 48 newly found CAE patients.


RESULTS
The authors found 13 single nucleotide polymorphisms (SNPs). They also found 4 mutations which only existed in CAE patients. Both G773D and H515Y mutations were heterozygous. The mutation of H515Y has never been reported previously. The patient inherited the mutation from his mother. The authors found two CAE patients with the mutation of G773D previously. This is the third time that the authors found one more CAE family with this G773D mutation, and the patient with the mutation G773D inherited the mutation from his father.


CONCLUSIONS
T-type calcium channel gene-CACNA1H might be a susceptibility gene to childhood absence epilepsy.
Lü
Jian-jun
JJ
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhang
Yue-hua
YH
Chen
Yu-cai
YC
Pan
Hong
H
Wang
Ju-li
JL
Zhang
Lei
L
Wu
Hu-sheng
HS
Xu
Ke-ming
KM
Liu
Xiao-yan
XY
Tao
La-di
LD
Shen
Yan
Y
Wu
Xi-ru
XR
D000595:Amino Acid Sequence; D020747:Calcium Channels, T-Type / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004832:Epilepsy, Absence / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
C479952:CACNA1H protein, human; D020747:Calcium Channels, T-Type