Results 71 to 80 of about 4,664 (202)
Pediatric Dermatology, 2023 AbstractCongenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self‐injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis.
Maurizio Romagnuolo +4 more
openaire +2 more sources
Congenital Insensitivity to Pain: A Case Report and Review of the Literature
Case Reports in Neurological Medicine, 2014 Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon ...
Leema Reddy Peddareddygari +2 more
doaj +1 more source
Wellcome Open Research, 2018 Background: Functional deletion of the Scn9a (sodium voltage-gated channel alpha subunit 9) gene encoding sodium channel Nav1.7 makes humans and mice pain-free. Opioid signalling contributes to this analgesic state.
Vanessa Pereira +5 more
doaj +1 more source
Epilepsy & Behavior Reports, 2022 Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of
Takuya Masuda +8 more
doaj +1 more source
The Peptide Network between Tetanus Toxin and Human Proteins Associated with Epilepsy [PDF]
, 2014 Sequence matching analyses show that Clostridium tetani neurotoxin shares numerous pentapeptides (68, including multiple occurrences) with 42 human proteins that, when altered, have been associated with epilepsy.
Kanduc, D., Lucchese, G., Spinosa, J.P.
core +3 more sources
Epilepsia, Volume 67, Issue 1, Page 299-314, January 2026.Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo +15 more
wiley +1 more source
Analyzing China’s contributions to major dermatologic journals from the past 20 years [PDF]
, 2020 Background: Over the past 20 years, China has experienced an increased popularity of Western medicine. The impact of Western medicine in China on the field of dermatology is not well characterized.
Bray, Jeremy K, Feldman, Steven R
core
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia [PDF]
, 2014 IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity.
Bodemer, Christine +7 more
core +1 more source
Common Missense Variant of SCN9A Gene Is Associated with Pain Intensity in Patients with Chronic Pain from Disc Herniation [PDF]
Pain Medicine, 2017 Lumbar intervertebral disk herniation (LDH) is considered one of the major risk factors for lower back pain, mainly caused by irritation of a spinal nerve or its root. One of the genes related to pain perception is SCN9A, which encodes the voltage gated sodium channel NaV1.7, a key molecule involved in peripheral pain processing.
Mateusz, Kurzawski +6 more
openaire +2 more sources
Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis
Arthritis Care &Research, Volume 77, Issue 12, Page 1409-1417, December 2025.Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin +15 more
wiley +1 more source