Results 71 to 80 of about 2,568 (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
Phase transitions in single neurons and neural populations: Critical slowing, anesthesia, and sleep cycles [PDF]
, 2010 The firing of an action potential by a biological neuron represents a dramatic transition from small-scale linear stochastics (subthreshold voltage fluctuations) to gross-scale nonlinear dynamics (birth of a 1-ms voltage spike). In populations of neurons
Sleigh, James W. +3 more
core +2 more sources
Dietary Zinc Acts as a Sleep Modulator [PDF]
, 2017 While zinc is known to be important for many biological processes in animals at a molecular and physiological level, new evidence indicates that it may also be involved in the regulation of sleep.
Cherasse Yoan +2 more
core +2 more sources
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
A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization [PDF]
, 2010 We report on a newly discovered serum and cerebrospinal fluid (CSF) reactivity to Purkinje cells (PCs) associated with subacute inflammatory cerebellar ataxia. The patient, a previously healthy 33-year-old lady, presented with severe limb and gait ataxia,
Sven Jarius +4 more
core +2 more sources
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
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
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
BMC Neurology, 2012 Background The mammalian neurological disorder hereditary hyperekplexia can be attributed to various mutations of strychnine sensitive glycine receptors.
de la Roche Jeanne +6 more
doaj +1 more source
Chloride Ions in the Pore of Glycine and GABA Channels Shape the Time Course and Voltage Dependence of Agonist Currents [PDF]
, 2011 In the vertebrate CNS, fast synaptic inhibition is mediated by GABA and glycine receptors. We recently reported that the time course of these synaptic currents is slower when intracellular chloride is high.
Beato, M +6 more
core +2 more sources