Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures.
J Pharmacol Sci
; 121(1): 84-7, 2013.
Article
en En
| MEDLINE
| ID: mdl-23257655
ABSTRACT
We recently identified a novel missense mutation of the γ(2) subunit at position 40 with serine (N40S) of the GABA(A) 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(2+), 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.
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Banco de datos:
MEDLINE
Asunto principal:
Receptores de GABA-A
/
Mutación Missense
/
Epilepsia
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
J Pharmacol Sci
Asunto de la revista:
FARMACOLOGIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Japón