Risako Kabata, Hiroko Okuda, Atsuko Noguchi, Daiki Kondo, Michimasa Fujiwara, Kenichiro Hata, Yoshifumi Kato, Ken Ishikawa, Manabu Tanaka, Yuji Sekine, Nozomi Hishikawa, Tomoyuki Mizukami, Junichi Ito, Manami Akasaka, Ken Sakurai, Takeshi Yoshida, Hironori Minoura, Takashi Hayashi, Kohei Inoshita, Misayo Matsuyama, Noriko Kinjo, Yang Cao, Sumiko Inoue, Hatasu Kobayashi, Kouji H Harada, Shohab Youssefian, Tsutomu Takahashi, Akio Koizumi
We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterioration and mitigation in adolescence, and reported two new mutations p.R222H/S in SCN11A responsible for these episodes. As no term described this syndrome (familial episodic pain: FEP) in Japanese, we named it as". In the current study, we recruited an additional 42 new unrelated Japanese FEP families, between March 2016 and March 2018, and identified a total of 11 mutations in SCN11A: p...
2018: PloS One