Results 51 to 60 of about 2,568 (202)

Stiff Person Spectrum Disorders—An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives

Biomedicines, 2023
Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment ...
Benjamin Vlad, Yujie Wang, Scott D. Newsome, Bettina Balint   +3 more
doaj   +1 more source

Potentiation of glycine-gated NR1/NR3A NMDA receptors relieves Ca2+-dependent outward rectification [PDF]

, 2010
Glycine has diverse functions within the mammalian central nervous system. It inhibits postsynaptic neurons via strychnine-sensitive glycine receptors (GlyRs) and enhances neuronal excitation through co-activation of N-methyl-D-aspartate (NMDA) receptors.
Betz, Heinrich, Geiger, Jörg R. P., Laube, Bodo, Madry, Christian   +3 more
core   +1 more source

Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations

Pediatric Neurology Briefs, 2013
Investigators at Swansea University and other centers in the UK, Australia, and Belgium studied the genotype-phenotype correlations in 97 individuals with a clinical diagnosis of hyperekplexia; 61 cases had mutations in GLRA1, 24 cases in SLC6A5 and 12 ...
J Gordon Millichap
doaj   +1 more source

Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants

Frontiers in Molecular Neuroscience, 2020
A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) β subunit.
Natascha Schaefer, Jérémy Signoret-Genest, Jérémy Signoret-Genest, Cora R. von Collenberg, Britta Wachter, Jürgen Deckert, Philip Tovote, Robert Blum, Carmen Villmann   +8 more
doaj   +1 more source

Neurotransmitter-gated ion channels at fast chemical synapses: from structure to pathology [PDF]

, 2005
Fil: Bouzat, Cecilia Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Bahía Blanca. Instituto de Investigaciones Bioquímicas de Bahía Blanca. Universidad Nacional del Sur.
Bouzat, Cecilia Beatriz
core  

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

Hyperekplexia; Response to Clonazepam

Pediatric Neurology Briefs, 1992
Sixteen patients, including 1 neonate, in a large 5 generation family with hyperekplexia (startle disease or congenital stiff-man syndrome) were treated with clonazepam at the University of Texas Health Science Center, San Antonio, TX.
J Gordon Millichap
doaj   +1 more source

converging evidence from an intermediate phenotype approach [PDF]

, 2017
Representing a phylogenetically old and very basic mechanism of inhibitory neurotransmission, glycine receptors have been implicated in the modulation of behavioral components underlying defensive responding toward threat. As one of the first findings
Arolt, V., Deckert, J., Domschke, K., Kircher, T., Kuhn, M., Lonsdorf, T. B., Lueken, U., Pfleiderer, B., Reif, A., Straube, B., Ströhle, A., Weber, H., Wittchen, H.-U., Wittmann, A., Yang, Y.   +14 more
core   +1 more source

Case Report: Dexmedetomidine for Intractable Clusters of Myoclonic Jerks and Paroxysmal Sympathetic Hyperactivity in Progressive Encephalomyelitis With Rigidity and Myoclonus

Frontiers in Neurology, 2021
Introduction: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a severe form of stiff-person spectrum disorder characterized by painful spasms, myoclonic jerks, hyperekplexia, brainstem dysfunction, and dysautonomia, which is sometimes
Yuzo Fujino, Yuzo Fujino, Kensuke Shiga, Masatoshi Hori, Aiko Tamura, Takahiro Iizuka   +5 more
doaj   +1 more source

International Veterinary Epilepsy Task Force consensus proposal: Medical treatment of canine epilepsy in Europe [PDF]

, 2015
In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which ...
A Fischer, A Khoutorsky, A Tipold, AJ Streeter, AJ Wilensky, AK Cook, Akos Pakozdy, AM Kiviranta, Andrea Fischer, Andrea Tipold, B Dayrell-Hart, BF Bourgeois, C O'Dell, C Rundfeldt, C Rundfeldt, CH Gulløv, CL Gaskill, CL Gaskill, Clare Rusbridge, CW Dewey, CW Dewey, CW Dewey, D Ruehlmann, D Schwartz-Porsche, DJ Morton, DM Boothe, DM Boothe, DW Chadwick, DW Kaufman, Edward E. Patterson, EE Patterson, ES Nichols, F Al-Tahan, G Hussein, G Jacobs, GC Farnbach, GD Montouris, GD Thurman, GJ Sills, GW Caldwell, H Freitag, HA Volk, HE Baird-Heinz, Heidrun Potschka, HH Frey, HH Frey, HM Wright, Holger A. Volk, HS White, IC Wong, IE Leppik, IH Shaik, J Janszky, J Speciale, J Weissl, Jacques Penderis, JJ Shih, JJ Shih, JM Pellock, JT Yarrington, JY Chung, K Orito, KA Lyseng-Williamson, Karen Muñana, Kaspar Matiasek, KL Weiss, KR Muñana, KR Muñana, KR Muñana, L Alves, L Risio De, LA Trepanier, LA Trepanier, LA Trepanier, LA Trepanier, LD Cahan, LJ Stephen, LL Radulovic, Luisa De Risio, M Berendt, M Berendt, M Bialer, M Charalambous, M Govendir, M Podell, M Podell, M Podell, M Podell, M Schwartz, M Taverna, M1 Contin, MA Rogawski, Mette Berendt, MFD Steinberg, Michael Podell, ML Miller, N Scola, P Jull, P Kwan, PA March, PA March, Paul J.J. Mandigers, PB Müller, PN Patsalos, R Monteiro, RD Elterman, RE Levitski, RM Packer, Robyn G. Farquhar, RS Hess, S Daminet, S Rieck, S Shorvon, SA Kube, SA Moore, SA Moore, Sam Long, SD Forrester, SD Shorvon, SE Bunch, SE Martinez, SI Johannessen, Simon Platt, SM Roche La, SO Wagner, Sofie F.M. Bhatti, SR Platt, T Glauser, T Hojo, T Klopmann von, T Klopmann von, TA Glauser, TL Gieger, TL Gieger, TP Sutula, V Hülsmeyer, V Salazar, VE Adusumalli, Veronika M. Stein, W Löscher, W Löscher, WB Thomas, WB Thomas, WM Pedersoli, Wolfgang Löscher, WR Garnett, WR Ravis, WR Ravis, Y Heynold   +148 more
core   +7 more sources