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p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

Autor: Muriel Schaller, Thierry Kuntzer, Cédric J. Laedermann, Isabelle Decosterd, Maurice W. Stauffacher, Eliane Roulet, Marc R Suter, Zahurul A. Bhuiyan, Hugues Abriel, Christian Wider

Publikováno v: Suter, Marc; Bhuiyan, Zahurul A; Laedermann, Cédric; Kuntzer, Thierry; Schaller, Muriel; Stauffacher, Maurice W; Roulet, Eliane; Abriel, Hugues; Decosterd, Isabelle; Wider, Christian (2015). p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder. Anesthesiology, 122(2), pp. 414-423. Lippincott Williams & Wilkins 10.1097/ALN.0000000000000476

Background: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation. Methods:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdf95e27de8362466e25cfe00d176b7