Article
Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 19 Nov 2008
Zhu Gang, Okada Motohiro, Yoshida Shukuko, Ueno Shinya, Mori Fumiaki, Takahara Tomoko, Saito Ryo, Miura Yoshiki, Kishi Akihiro, Tomiyama Masahiko, Sato Akira, Kojima Toshio, Fukuma Goryu, Wakabayashi Koichi, Hase Koji, Ohno Hiroshi, Kijima Hiroshi, Takano Yukio, Mitsudome Akihisa, Kaneko Sunao, Hirose Shinichi
Abstract excerpt
Mutations of genes encoding alpha4, beta2, or alpha2 subunits (CHRNA4, CHRNB2, or CHRNA2, respectively) of nAChR [neuronal nicotinic ACh (acetylcholine) receptor] cause nocturnal frontal lobe epilepsy (NFLE) in human. NFLE-related seizures are seen exclusively during sleep and are characterized by three distinct seizure phenotypes: "paroxysmal arousals," "paroxysmal dystonia," and "episodic wandering." We...
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