Results 31 to 40 of about 4,664 (202)
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders [PDF]
Journal of Clinical Investigation, 2007 The voltage-gated sodium-channel type IX alpha subunit, known as Na(v)1.7 and encoded by the gene SCN9A, is located in peripheral neurons and plays an important role in action potential production in these cells. Recent genetic studies have identified Na(v)1.7 dysfunction in three different human pain disorders.
Drenth, J.P.H., Waxman, S.G.
openaire +4 more sources
Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]
, 2013 Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Doehring, Alexandra +4 more
core +2 more sources
Frontiers in Pediatrics, 2022 BackgroundPrimary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival can be improved by specific site-to-site ...
Shuo Feng +6 more
doaj +1 more source
PLoS ONE, 2015 The Nav1.7 voltage-gated sodium channel, encoded by SCN9A, is critical for human pain perception yet the transcriptional and post-transcriptional mechanisms that regulate this gene are still incompletely understood.
Jennifer Koenig +11 more
doaj +1 more source
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]
, 2016 BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq +7 more
core +3 more sources
Frontiers in Neurology, 2023 ObjectiveThis study aimed to examine the clinical and gene-mutation characteristics of pediatric patients with sodium channel gene mutation-related childhood epilepsy and to provide a basis for precision treatment and genetic counseling.MethodsThe ...
Hongjun Fang +10 more
doaj +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
BMC Medical Genetics, 2018 Background Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli.
Wen He +10 more
doaj +1 more source
Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
Indian Journal of Paediatric Dermatology, 2021 Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout +3 more
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source