Article
Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.
Epilepsy research - 1 Feb 2002
Matsushima Nobuaki, Hirose Shinichi, Iwata Hiromi, Fukuma Goryu, Yonetani Minako, Nagayama Chiaki, Hamanaka Wakako, Matsunaka Yukiko, Ito Masatoshi, Kaneko Sunao, Mitsudome Akihisa, Sugiyama Hiroyuki
Abstract excerpt
To date five mutations in two major constituents of neuronal nicotinic acetylcholine receptor (nAChR) in the brain, i.e. alpha4 and beta2 subunits, have been identified to be associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Among them, only Ser284Leu, a point mutation in alpha4 subunit identified in ADNFLE as well as in a sporadic case with nocturnal frontal lobe epilepsy, remains to...
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