Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A.
Kabata R, et al. Among authors: koizumi a.
PLoS One. 2018 Dec 17;13(12):e0208516. doi: 10.1371/journal.pone.0208516. eCollection 2018.
PLoS One. 2018.
PMID: 30557356
Free PMC article.
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 de …
We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterior …