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Papers of the Week


Papers: 5 Aug 2023 - 11 Aug 2023

RESEARCH TYPE:
Basic Science


Genetics, Human Studies, Neurobiology, Neuroimaging

PAIN TYPE:
Neuropathic Pain


2023 Aug 09


J Peripher Nerv Syst


37555797

Genetic, Electrophysiological, and Pathological Studies on Patients with SCN9A-related Pain Disorders.

Authors

Yuan JH, Cheng X, Matsuura E, Higuchi Y, Masahiro A, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H

Abstract

Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of this study was to determine the genetic etiology of patients experiencing neuropathic pain, and shed light on the underlying pathogenesis.