Article
Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility.
Acta neuropathologica communications - 30 Nov 2020
Hayase Yoneko, Amano Shigeru, Hashizume Koichi, Tominaga Takashi, Miyamoto Hiroyuki, Kanno Yukie, Ueno-Inoue Yukiko, Inoue Takayoshi, Yamada Mayumi, Ogata Shigehiro, Balan Shabeesh, Hayashi Ken, Miura Yoshiki, Tokudome Kentaro, Ohno Yukihiro, Nishijo Takuma, Momiyama Toshihiko, Yanagawa Yuchio, Takizawa Akiko, Mashimo Tomoji, Serikawa Tadao, Sekine Akihiro, Nakagawa Eiji, Takeshita Eri, Yoshikawa Takeo, Waga Chikako, Inoue Ken, Goto Yu-Ichi, Nabeshima Yoichi, Ihara Nobuo, Yamakawa Kazuhiro, Taya Shinichiro, Hoshino Mikio
Abstract excerpt
The Ihara epileptic rat (IER) is a mutant model with limbic-like seizures whose pathology and causative gene remain elusive. In this report, via linkage analysis, we identified Down syndrome cell adhesion molecule-like 1(Dscaml1) as the responsible gene for IER. A single base mutation in Dscaml1 causes abnormal splicing, leading to lack of DSCAML1. IERs have enhanced seizure susceptibility and accelerated...
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