Results 51 to 60 of about 5,273 (196)

Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy [PDF]

Seizure, 2019
This study aimed to identify disease-causing gene mutations in individuals belonging to the Southern Chinese Han population diagnosed with fever-associated seizures or epilepsy (FASE).Blood samples and clinical data were collected from 78 children with FASE.
Jian Ding, Jing-Wen Zhang, Yu-Xiong Guo, Yu-Xin Zhang, Zhi-Hong Chen, Qiong-Xiang Zhai   +5 more
openaire   +2 more sources

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

Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy

Brain, 2023
AbstractPersonalized management of neuropathic pain is an unmet clinical need due to heterogeneity of the underlying aetiologies, incompletely understood pathophysiological mechanisms and limited efficacy of existing treatments. Recent studies on microRNA in pain preclinical models have begun to yield insights into pain-related mechanisms, identifying ...
Mirna Andelic, Erika Salvi, Stefania Marcuzzo, Margherita Marchi, Raffaella Lombardi, Daniele Cartelli, Daniele Cazzato, Elkadia Mehmeti, Andrea Gelemanovic, Matilde Paolini, Carlotta Pardo, Ilaria D’Amato, Janneke G J Hoeijmakers, Sulayman Dib-Hajj, Stephen G Waxman, Catharina G Faber, Giuseppe Lauria   +16 more
openaire   +3 more sources

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels [PDF]

Pflügers Archiv - European Journal of Physiology, 2020
AbstractChronic pain is a global problem affecting up to 20% of the world’s population and has a significant economic, social and personal cost to society. Sensory neurons of the dorsal root ganglia (DRG) detect noxious stimuli and transmit this sensory information to regions of the central nervous system (CNS) where activity is perceived as pain.
Baker, MD, Nassar, MA
openaire   +5 more sources

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

BMC Medical Genomics, 2023
Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect ...
Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah   +7 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, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar   +3 more
doaj   +1 more source

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

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations [PDF]

Human Mutation, 2010
SCN9Aencodes the voltage-gated sodium channel Na(v)1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder
Cox, James J, Sheynin, Jony, Shorer, Zamir, Reimann, Frank, Nicholas, Adeline K, Zubovic, Lorena, Baralle, Marco, Wraige, Elizabeth, Manor, Esther, Levy, Jacov, Woods, C Geoffery, Parvari, Ruti   +11 more
openaire   +2 more sources

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

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