The role of voltage-gated sodium channels in pain signaling
Acute pain signaling has a key protective role and is highly evolutionarily conserved.
Chronic pain, however, is maladaptive, occurring as a consequence of injury and disease …
Chronic pain, however, is maladaptive, occurring as a consequence of injury and disease …
Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success
V Timmerman, AV Strickland, S Züchner - Genes, 2014 - mdpi.com
Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
E Leipold, L Liebmann, GC Korenke, T Heinrich… - Nature …, 2013 - nature.com
The sensation of pain protects the body from serious injury,,. Using exome sequencing, we
identified a specific de novo missense mutation in SCN11A in individuals with the congenital …
identified a specific de novo missense mutation in SCN11A in individuals with the congenital …
Painful and painless channelopathies
DLH Bennett, CG Woods - The Lancet Neurology, 2014 - thelancet.com
The discovery of genetic variants that substantially alter an individual's perception of pain
has led to a step-change in our understanding of molecular events underlying the detection …
has led to a step-change in our understanding of molecular events underlying the detection …
Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery
P Imbrici, A Liantonio, GM Camerino… - Frontiers in …, 2016 - frontiersin.org
In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …
Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use
SG Waxman, ISJ Merkies, MM Gerrits… - The Lancet …, 2014 - thelancet.com
Human studies have firmly implicated voltage-gated sodium channels in human pain
disorders, and targeted and massively parallel genomic sequencing is beginning to be used …
disorders, and targeted and massively parallel genomic sequencing is beginning to be used …
NaV1. 7 as a pain target–from gene to pharmacology
Abstract Na V 1.7, a subtype of the voltage-gated sodium channel family that is highly
expressed in peripheral sensory neurons, remains one of the most promising targets for the …
expressed in peripheral sensory neurons, remains one of the most promising targets for the …
Sodium channels in human pain disorders: genetics and pharmacogenomics
SD Dib-Hajj, SG Waxman - Annual Review of Neuroscience, 2019 - annualreviews.org
Acute pain is adaptive, but chronic pain is a global challenge. Many chronic pain syndromes
are peripheral in origin and reflect hyperactivity of peripheral pain-signaling neurons …
are peripheral in origin and reflect hyperactivity of peripheral pain-signaling neurons …
Genetic neurological channelopathies: molecular genetics and clinical phenotypes
J Spillane, DM Kullmann, MG Hanna - Journal of Neurology …, 2016 - jnnp.bmj.com
Evidence accumulated over recent years has shown that genetic neurological
channelopathies can cause many different neurological diseases. Presentations relating to …
channelopathies can cause many different neurological diseases. Presentations relating to …
Clinical genetics of Charcot–Marie–Tooth disease
Y Higuchi, H Takashima - Journal of Human Genetics, 2023 - nature.com
Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …