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Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures
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نویسنده
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migita k. ,yamada j. ,nikaido y. ,shi x.y. ,kaneko s. ,hirose s. ,ueno s.
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منبع
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journal of pharmacological sciences - 2013 - دوره : 121 - شماره : 1 - صفحه:84 -87
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چکیده
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We recently identified a novel missense mutation of the γ2 subunit at position 40 with serine (n40s) of the gabaa 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,zn2+,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. © the japanese pharmacological society.
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کلیدواژه
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γ2 subunit mutation; Epilepsy; GABAA receptor
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آدرس
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department of neurophysiology,hirosaki university,graduate school of medicine,5 zaifu-cho,hirosaki,aomori 036-8562, Japan, department of neurophysiology,hirosaki university,graduate school of medicine,5 zaifu-cho,hirosaki,aomori 036-8562, Japan, department of neurophysiology,hirosaki university,graduate school of medicine,5 zaifu-cho,hirosaki,aomori 036-8562, Japan, department of pediatrics,school of medicine,fukuoka university,fukuoka 814-0180,japan,department of pediatrics,chinese pla general hospital,beijing 100853, China, department of neuropsychiatry,hirosaki university,graduate school of medicine,5 zaifu-cho,hirosaki,aomori 036-8562, Japan, department of pediatrics,school of medicine,fukuoka university,fukuoka 814-0180,japan,central research institute for the pathomechanisms of epilepsy,fukuoka university,fukuoka 814-0180, Japan, department of neurophysiology,hirosaki university,graduate school of medicine,5 zaifu-cho,hirosaki,aomori 036-8562, Japan
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Authors
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