Results 51 to 60 of about 1,995 (192)
MECHANISMS OF DISEASE IN THE HYPEREKPLEXIAS [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2014 Aims To identify mutations associated with hyperekplexia and to investigate the underlying pathophysiological mechanism of novel mutations identified, whilst providing a genetic diagnosis of hyperekplexia in the cases referred. Method As part of an ongoing screening program we have analysed the entire coding regions of GLRA1, GLRB and SLC6A5 in 234 ...
Mark Rees +2 more
openaire +1 more source
Epilepsia, Volume 67, Issue 7, Page 3629-3643, July 2026.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
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 +3 more
doaj +1 more source
The Journal of Physiology, Volume 604, Issue 12, Page 4926-4944, 15 June 2026.Abstract figure legend Vibrodissociated Pukinje neurons retain active synaptic connections, including those from adhering fragments of the climbing fibre. These fragments generate excitatory synaptic events and the frequency of these events is increased by exposure to either NMDA [with d‐serine (d‐ser) as a co‐agonist] or glycine at a high (100 µM ...
David C. H. Benton +7 more
wiley +1 more source
Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.Platform system to create biofabricated 3D spinal cord tissue models: Combining high resolution PCL fiber placement, a customized, hyaluronic acid‐based hydrogel, two cell types (spinal cord neurons and astrocytes) together with three distinct laminin isoforms allow the formation of functional cell–cell network interactions.
Nicoletta Murenu +12 more
wiley +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 +8 more
doaj +1 more source
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report [PDF]
, 2014 INTRODUCTION: Hereditary hyperekplexia is a neurological disorder characterized by excessive startle responses with violent jerking to noise or touch, stiffening of the trunk and limbs, clenching of the fists and attacks of a high-frequency trembling ...
Ferdinandyné Horváth, Emese +9 more
core +2 more sources
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 +5 more
doaj +1 more source
Brain Pathology, Volume 36, Issue 2, March 2026.Deep learning tissue mapping can guide region of interest selection for spatial transcriptomic analyses. Using this method, a transcriptional catalogue of focal cortical dysplasia type IIb was generated, revealing enrichment for markers of inhibitory glycinergic signaling in cytomegalic dysmorphic neurons.
Ameesha Paliwal +8 more
wiley +1 more source
Ethnicity can predict GLRA1 genotypes in hyperekplexia
, 2015 \ua9 2015 J Neurol Neurosurg Psychiatry.Objectives Hyperekplexia is predominantly caused by mutations in the \ue1-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.
Chung SK +5 more
core +4 more sources