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 …
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 …
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 …
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 …
significant economic, social and personal cost to society. Sensory neurons of the dorsal root …
[HTML][HTML] Congenital insensitivity to pain overview
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 …
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 …
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 …
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 …
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 …
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
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 …
pain have lesser known or unidentified mutations not captured by conventional genetic …