Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia. [PDF]
Ann NeurolSCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Routledge N +11 more
europepmc +2 more sources
No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes
Journal of Affective Disorders Reports, 2023 body: Children, who are born without any perception of pain, tend to develop a severe phenotype of self-injury. Pain, despite being a dreadful experience, is an important warning signal that prevents us from cutting, biting, or burning ourselves ...
Maike F. Dohrn +3 more
doaj +1 more source
Genomic Markers for Essential Tremor
Pharmaceuticals, 2021 There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers.
Félix Javier Jiménez-Jiménez +5 more
doaj +1 more source
Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families. [PDF]
PLoS ONE, 2016 Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain ...
Hiroko Okuda +18 more
doaj +1 more source
Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9. [PDF]
Bone, 2016 Congenital insensitivity to pain (CIP) comprises the rare heritable disorders without peripheral neuropathy that feature inability to feel pain. Fracturing and joint destruction are common complications, but lack detailed studies of mineral and skeletal homeostasis and bone histology.
Voraluck Phatarakijnirund +6 more
semanticscholar +3 more sources
Editors' Pick: What a pain.., or not! [PDF]
, 2014 Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different genes.
Kayser, M.H. (Manfred)
core +5 more sources
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration. [PDF]
Ann Clin Transl NeurolABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Cashman CR, Blackstone C, Sadjadi R.
europepmc +2 more sources
BMC Anesthesiology, 2020 Background Postoperative inadequate analgesia following video-assisted thoracoscopic surgery (VATS) is a common and significant clinical problem. While genetic polymorphisms may play role in the variability of postoperative analgesia effect, few studies ...
Xiufang Xing +3 more
doaj +1 more source
The role of Nav1.9 channel in the development of neuropathic orofacial pain associated with trigeminal neuralgia [PDF]
, 2015 BACKGROUND: Trigeminal neuralgia is accompanied by severe mechanical, thermal and chemical hypersensitivity of the orofacial area innervated by neurons of trigeminal ganglion (TG).
Kopach, O +3 more
core +1 more source
A disease mutation reveals a role for Nav1.9 in acute itch [PDF]
, 2018 Itch (pruritis) and pain represent two distinct sensory modalities; yet both have evolved to alert us to potentially harmful external stimuli. Compared with pain, our understanding of itch is still nascent.
Bosmans, Frank +5 more
core +1 more source