Results 71 to 80 of about 1,802 (202)
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
The FASEB Journal, Volume 39, Issue 11, 15 June 2025.Mutations in the human GABA transporter 1 (hGAT‐1) gene impair GABA transport, leading to developmental disorders like epilepsy and autism. These mutations often disrupt protein folding. Pharmacochaperones can rescue transporter expression and function in heterologous cell lines and in Drosophila melanogaster, thus offering potential therapeutic ...
Nikita Shah +8 more
wiley +1 more source
Ethnicity can predict GLRA1 genotypes in hyperekplexia
, 2014 Objectives: Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.
Seo-Kyung Chung +7 more
core +1 more source
Immune Dysregulation in a Child With SOD1‐Related Neurological Disease
American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin +5 more
wiley +1 more source
Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla
, 2000 MRI showed impingement of the vertebral artery on theleft lateral medulla in two patients with arterial hypertension, exaggerated startle reflexes (hyperekplexia), and progressive spastic paresis.
F. Salvi +9 more
core +1 more source
Functional recovery of glycine receptors in spastic murine model of startle disease
Neurobiology of Disease, 2006 Clinical variability is common in inherited gene defects of the central nervous system in humans and in animal models of human disorders. Here, we used the homozygous spastic (spa) mutant mice, which resemble human hereditary hyperekplexia, to determine ...
Annamaria Molon +4 more
doaj +1 more source
Sinus node paucity in hyperekplexia
Indian Pediatrics, 2010 We report a newborn with hyperekplexia and uncontrolled tonic spasms which did not respond to intravenous phenobarbitone and phenytoin, and midazolam infusion. Serum biochemistry, electrocardiography, electroencephalography, lumbar puncture and neuroimaging were normal.
S, Ozkiraz +3 more
openaire +2 more sources
Milestone Review: Unlocking the Proteomics of Glycine Receptor Complexes
Journal of Neurochemistry, Volume 169, Issue 4, April 2025.Glycine receptors (GlyRs) play key roles in brain development, learning/memory, inflammatory pain sensitization, and rhythmic breathing. GlyRs depend upon stable and transient protein–protein interactions that influence synaptic localization, homeostasis, signaling pathways, and receptor function.
Sean D. Fraser +4 more
wiley +1 more source
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
Neurobiology of Disease, 2013 Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli.
Victoria M. James +14 more
doaj +1 more source
Research Progress in the Study of Startle Reflex to Disease States
Neuropsychiatric Disease and Treatment, 2022 Junfeng Zhang,1,2 Meng Wang,1 Baoyu Wei,3 Jiangwei Shi,1 Tao Yu1 1First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, 300380, People’s Republic of China; 2National Clinical Research Center for Chinese Medicine ...
Zhang J, Wang M, Wei B, Shi J, Yu T
doaj