Article
Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.
Nature medicine - 1 Jan 2015
Yokoi Norihiko, Fukata Yuko, Kase Daisuke, Miyazaki Taisuke, Jaegle Martine, Ohkawa Toshika, Takahashi Naoki, Iwanari Hiroko, Mochizuki Yasuhiro, Hamakubo Takao, Imoto Keiji, Meijer Dies, Watanabe Masahiko, Fukata Masaki
Abstract excerpt
Epilepsy is one of the most common and intractable brain disorders. Mutations in the human gene LGI1, encoding a neuronal secreted protein, cause autosomal dominant lateral temporal lobe epilepsy (ADLTE). However, the pathogenic mechanisms of LGI1 mutations remain unclear. We classified 22 reported LGI1 missense mutations as either secretion defective or secretion competent, and we generated and analyzed two...
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