Genetic, Electrophysiological, and Pathological Studies on Patients with SCN9A-related Pain Disorders.
Jun-Hui YuanXiaoyang ChengEiji MatsuuraYujiro HiguchiMasahiro AndoAkihiro HashiguchiAkiko YoshimuraRyo NakachiJun MineTakeshi TaketaniKenichi MaedaSaori KawakamiRyutaro KiraShoko TanakaKazuaki KanaiFadia Dib-HajjSulayman D Dib-HajjStephen G WaxmanHiroshi TakashimaPublished in: Journal of the peripheral nervous system : JPNS (2023)
Clinical features observed in our patients broaden the phenotypic spectrum of SCN9A-related pain disorders, and the electrophysiological analysis enriches the understanding of genotype-phenotype association caused by Nav1.7 gain-of-function mutations. This article is protected by copyright. All rights reserved.