Results 51 to 60 of about 4,664 (202)

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release. [PDF]

, 2016
Human genetic studies show that the voltage gated sodium channel 1.7 (Nav1.7) is a key molecular determinant of pain sensation. However, defining the Nav1.7 contribution to nociceptive signalling has been hampered by a lack of selective inhibitors.
Alexandrou, AJ, Brown, AR, Butt, RP, Castle, NA, Chapman, ML, Cox, PJ, Dib-Hajj, SD, Doyle, R, Estacion, M, Gutteridge, A, Hounshell, JA, Krafte, D, Lin, Z, Marron, BE, Mis, MA, Patel, MK, Payne, EC, Printzenhoff, D, Randall, A, Rivara, M, Stevens, EB, Storer, RI, Stupple, PA, Swain, NA, Turner, J, Waxman, SG, West, C, Wilbrey, A   +27 more
core   +1 more source

Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

Stem Cells International, 2020
Background. We report an inherited cardiac arrhythmia syndrome consisting of Brugada and Early Repolarization Syndrome associated with variants in SCN9A, PXDNL, and FKBP1B.
Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro   +9 more
doaj   +1 more source

Functional effects of schizophrenia-linked genetic variants on intrinsic single-neuron excitability: A modeling study

, 2015
Background: Recent genome-wide association studies (GWAS) have identified a large number of genetic risk factors for schizophrenia (SCZ) featuring ion channels and calcium transporters.
Andreassen, Ole A., Bettella, Francesco, Dale, Anders M., Devor, Anna, Djurovic, Srdjan, Einevoll, Gaute T., Halnes, Geir, Mäki-Marttunen, Tuomo, Wang, Yunpeng, Witoelar, Aree   +9 more
core   +2 more sources

Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating [PDF]

, 2017
Voltage-gated sodium channels are critical for neuronal activity, and highly intolerant to variation. Even mutations that cause subtle changes in the activity these channels are sufficient to cause devastating inherited neurological diseases, such as ...
Liavas, A, Lignani, G, Schorge, S
core   +1 more source

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +1 more source

Case report: Spinal cord stimulation in the treatment of pediatric erythromelalgia

Frontiers in Neurology, 2023
IntroductionIn children, erythromelalgia is a rare chronic pain syndrome characterized by erythema, severe burning pain, and itching of affected feet. Unfortunately, there is no definitive therapy available currently.Case reportHere, we report a case of ...
Lei Zuo, Ai Su, Ying Shi, Nan Li, Shiyu Chen, XiaoQiu Yang   +5 more
doaj   +1 more source

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations. [PDF]

, 2015
The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation.
Cox, James J, Emery, Edward C, Gribble, Fiona M, Habib, Abdella M, Nicholas, Adeline K, Reimann, Frank, Woods, C Geoffrey   +6 more
core   +3 more sources

Integrative single cell RNA‐sequencing and spatial transcriptomics uncovers distinct macrophage‐fibroblast cross‐talk in human hip synovium between patients with femoroacetabular impingement and osteoarthritis

Arthritis &Rheumatology, Accepted Article.
Objectives Femoroacetabular impingement (FAI) and synovitis have been recognized as essential factors for developing osteoarthritis (OA) in the hip joints. However, little is known about altered synovial cellular compositions, their associated transcriptomic profiles, and cell‐cell interactions in FAI and hip OA.
Gulzada Kulzhanova, Alexis Klee, Mina Botros, Victoria L. Hansen, John Reuter, Eliya Tazreena Tashbib, Eloise Fadial, Benjamin F. Ricciardi, Brian Giordano, Chia‐Lung Wu   +9 more
wiley   +1 more source

The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice

Frontiers in Molecular Neuroscience, 2022
The voltage-gated sodium channel Nav1.7 is encoded by SCN9A gene and plays a critical role in pain sensitivity. Several SCN9A gain-of-function (GOF) mutations have been found in patients with small fiber neuropathy (SFN) having chronic pain, including ...
Yaping Xue, Mélanie Kremer, Maria del Mar Muniz Moreno, Celeste Chidiac, Romain Lorentz, Marie-Christine Birling, Michel Barrot, Yann Herault, Yann Herault, Claire Gaveriaux-Ruff, Claire Gaveriaux-Ruff   +10 more
doaj   +1 more source

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy [PDF]

, 2016
Background Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.
A Escayg, A Ingason, A Ramalingam, A Suls, A Zangaladze, AA Kashevarova, Andrew E. Fry, Angus Clarke, B Lang, BC Lim, C Depienne, Catharine White, CB Catarino, CG Vanoye, Cheney Drew, Clare Taylor, D Carranza Rojo, D Pinto, Daniela T. Pilz, DT Miller, E Daalen van, E Matthews, E Rees, EL Heinzen, Elliott Rees, EM Reinthaler, Emma McCann, Frances Gibbon, G Kirov, Gareth Thomas, George Kirov, GJ Noh, Glyn Jones, GM Cooper, H Meng, H Saitsu, Hayley Archer, HC Mefford, HC Mefford, HC Mefford, HE Yu, Hood Mugalaasi, IA Adzhubei, J Sebat, Jaya Natarajan, JC Hodge, JL Groen, Johann Te Water Naude, K Wang, Kiran Mantripragada, KS Pollard, L Claes, L Weehi Te, LA Harkin, LA Weiss, Louise Hartley, M Bartnik, M Kircher, M Mantegazza, M Shinawi, MA Gillentine, Mark I. Rees, ME Talkowski, Michael J. Owen, Michael P. Kerr, MK Rudd, NA Singh, P Kumar, P Striano, Penny Blake, Peter Holmans, R Grantham, R Ullmann, Rhys H. Thomas, Rose Thompson, S Girirajan, SA Mullen, Sally Davies, SE Heron, Seo-Kyung Chung, Sian Jose, Sian Morgan, SR Williams, T Kleefstra, T Kleefstra, T Kleefstra, VM Kalscheuer, Wellcome Trust Case Control Consortium, X Shi, Y Chen   +89 more
core   +2 more sources