title: [The effect of CACNA1H gene G773D mutation on calcium channel function].
abstract: OBJECTIVE
  To study the effect of CACNA1H gene mutation G773D on calcium channel function.
  
  
  METHODS
  By the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant. And then using whole cell clamp technique, we studied the alterations of channel behavior in transfected HEK-293 cells.
  
  
  RESULTS
  There were no difference in kinetics of activation and inactivation of calcium channel between wild type and mutant. However comparing with the wild-type Cav3.2 channel, G773D mutant could increase the calcium current density significantly.
  
  
  CONCLUSIONS
  CACNA1H gene G773D mutation is able to increase calcium current and neuronal excitability.
authors.affiliation: Department of Pediatrics, First Hospital, Peking University, Bejing 100034, P. R. China.
authors.forename: Ju-li
authors.initials: JL
authors.lastname: Wang
authors.forename: Chong-yang
authors.initials: CY
authors.lastname: Han
authors.forename: Yu-hong
authors.initials: YH
authors.lastname: Jing
authors.forename: Yu-cai
authors.initials: YC
authors.lastname: Chen
authors.forename: Nan
authors.initials: N
authors.lastname: Feng
authors.forename: Jian-jun
authors.initials: JJ
authors.lastname: Lu
authors.forename: Yue-hua
authors.initials: YH
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Hu-sheng
authors.initials: HS
authors.lastname: Wu
authors.forename: Ke-ming
authors.initials: KM
authors.lastname: Xu
authors.forename: Yu-wu
authors.initials: YW
authors.lastname: Jiang
authors.forename: Jian-min
authors.initials: JM
authors.lastname: Liang
authors.forename: Ling
authors.initials: L
authors.lastname: Wang
authors.forename: Xiao-liang
authors.initials: XL
authors.lastname: Wang
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Xi-ru
authors.initials: XR
authors.lastname: Wu
mesh_terms: D001483:Base Sequence; D020747:Calcium Channels, T-Type / Q000235:genetics* / Q000502:physiology*; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018408:Patch-Clamp Techniques; D020641:Polymorphism, Single Nucleotide
chemical_list: C479952:CACNA1H protein, human; D020747:Calcium Channels, T-Type