Genetic pain loss disorders

A Lischka, P Lassuthova, A Çakar, CJ Record… - Nature Reviews …, 2022 - nature.com
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …

Small‐fiber neuropathy: expanding the clinical pain universe

M Sopacua, JGJ Hoeijmakers… - Journal of the …, 2019 - Wiley Online Library
Small‐fiber neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C
fibers. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to …

[PDF][PDF] Understanding the genetic basis of congenital insensitivity to pain

I Drissi, WA Woods, CG Woods - British Medical Bulletin, 2020 - academic.oup.com
Introduction or background Congenital insensitivity to pain (CIP) is caused by extremely rare
Mendelian genetic disorders. CIP individuals demonstrate the unexpectedly severe …

[HTML][HTML] Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels

MD Baker, MA Nassar - Pflügers Archiv-European Journal of Physiology, 2020 - Springer
Chronic pain is a global problem affecting up to 20% of the world's population and has a
significant economic, social and personal cost to society. Sensory neurons of the dorsal root …

[HTML][HTML] Congenital insensitivity to pain overview

KR Schon, APJ Parker, CG Woods - 2020 - europepmc.org
Congenital insensitivity to pain (CIP) is an extremely rare phenotype characterized by the
inability to perceive pain (absence of nociception) from birth. Individuals with CIP do not feel …

Understanding the physiological role of NaV1. 9: Challenges and opportunities for pain modulation

W Brackx, R de Cássia Collaço, M Theys… - Pharmacology & …, 2023 - Elsevier
Abstract Voltage-activated Na+(Na V) channels are crucial contributors to rapid electrical
signaling in the human body. As such, they are among the most targeted membrane proteins …

[HTML][HTML] A novel gain-of-function Nav1. 9 mutation in a child with episodic pain

J Huang, M Estacion, P Zhao, FB Dib-Hajj… - Frontiers in …, 2019 - frontiersin.org
Voltage-gated sodium channel Nav1. 9 is a threshold channel that regulates action potential
firing. Nav1. 9 is preferentially expressed in myenteric neurons, and small-diameter dorsal …

[HTML][HTML] The NaV1.7 Channel Subtype as an Antinociceptive Target for Spider Toxins in Adult Dorsal Root Ganglia Neurons

TC Gonçalves, E Benoit, M Partiseti… - Frontiers in …, 2018 - frontiersin.org
Although necessary for human survival, pain may sometimes become pathologic if long-
lasting and associated with alterations in its signaling pathway. Opioid painkillers are …

[HTML][HTML] Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels

S Loose, A Lischka, S Kuehs, C Nau… - … -European Journal of …, 2023 - Springer
The voltage-gated sodium channel NaV1. 8 is prominently expressed in the soma and
axons of small-caliber sensory neurons, and pathogenic variants of the corresponding gene …

Expanding the genotypic spectrum of congenital sensory and autonomic neuropathies using whole-exome sequencing

JA Palma, R Yadav, D Gao… - Neurology …, 2021 - AAN Enterprises
Objective To test the hypothesis that many patients presenting with congenital insensitivity to
pain have lesser known or unidentified mutations not captured by conventional genetic …