小児四肢疼痛発作症についての論文紹介

1．Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.

Nagao C, Okuda H, Bekker GJ, Noguchi A, Takahashi T, Koizumi A, Youssefian S, Tezuka T, Akioka S.
Biochem Genet. 2024 Jul 25. doi: 10.1007/s10528-024-10888-1. Online ahead of print.
PMID: 39058404
The affected residue, Leu811, is located within the DII/S6 helix of Nav1.9 and is important for signal transduction from the voltage-sensing domain and pore opening. …By contrast, CIP-related p.Leu811Pro destabilized Nav1.9. Thus, we speculate that p …

2．Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Noguchi A, Tezuka T, Okuda H, Kobayashi H, Harada KH, Yoshida T, Akioka S, Wada K, Takeya A, Kabata-Murasawa R, Kondo D, Ishikawa K, Asano T, Fujiwara M, Hishikawa N, Mizukami T, Hitomi T, Youssefian S, Nagai Y, Tanaka M, Eto K, Shiraishi H, Amaya F, Koizumi A, Takahashi T.
Int J Mol Sci. 2024 Jun 21;25(13):6832. doi: 10.3390/ijms25136832.