Article
Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.
International journal of molecular sciences - 21 Jun 2024
Noguchi Atsuko, Tezuka Tohru, Okuda Hiroko, Kobayashi Hatasu, Harada Kouji H, Yoshida Takeshi, Akioka Shinji, Wada Keiko, Takeya Aya, Kabata-Murasawa Risako, Kondo Daiki, Ishikawa Ken, Asano Takeshi, Fujiwara Michimasa, Hishikawa Nozomi, Mizukami Tomoyuki, Hitomi Toshiaki, Youssefian Shohab, Nagai Yoshihiro, Tanaka Manabu, Eto Kaoru, Shiraishi Hideaki, Amaya Fumimasa, Koizumi Akio, Takahashi Tsutomu
Abstract excerpt
Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and SCN9A, which encode three voltage-gated sodium channels (VGSCs) expressed as key determinants of nociceptor excitability in primary sensory neurons. There may still be many undiagnosed patients with FEPS. A better understanding of the associated...
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