Properties of a Novel GABAA Receptor γ₂ Subunit Mutation Associated With Seizures Properties of a Novel GABA_A Receptor γ_2 Subunit Mutation Associated With Seizures

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Author(s)

Abstract

We recently identified a novel missense mutation of the γ<sub>2</sub> subunit at position 40 with serine (N40S) of the GABA<sub>A</sub> receptor from a patient with epilepsy. Here, we report properties of the mutant receptor using the whole cell patch clamp technique. The Hill coefficient for the N40S receptor was greater than for the wild-type (WT) receptor, while the EC50 and kinetics did not differ. Furthermore, the effects of diazepam, Zn<sup>2+</sup>, bicuculline, and pH were indistinguishable between WT and N40S receptors. These results suggest that the changes in the steepness of the concentration–response relationship for GABA in the N40S receptor may trigger epilepsy.

Journal

  • Journal of Pharmacological Sciences

    Journal of Pharmacological Sciences 121(1), 84-87, 2013-01-20

    The Japanese Pharmacological Society

References:  15

Codes

  • NII Article ID (NAID)
    10031147590
  • NII NACSIS-CAT ID (NCID)
    AA11806667
  • Text Lang
    ENG
  • Article Type
    SHO
  • ISSN
    13478613
  • NDL Article ID
    024212665
  • NDL Call No.
    Z53-D199
  • Data Source
    CJP  NDL  J-STAGE 
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