Results 11 to 20 of about 1,033 (156)
PLoS ONE, 2019 Glycine receptors (GlyRs) are ligand-gated chloride channels mediating inhibitory neurotransmission in the brain stem and spinal cord. They function as pentamers composed of alpha and beta subunits for which 5 genes have been identified in human (GLRA1 ...
Eric Samarut +5 more
doaj +5 more sources
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes [PDF]
Journal of Movement Disorders, 2017 Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia ...
Yoonju Lee +6 more
doaj +4 more sources
BMC Medical Genetics, 2019 Background Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually ...
Teresa Sprovieri +11 more
doaj +2 more sources
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor [PDF]
European Journal of Human Genetics, 2007 Mutations in the GLRA1 gene, which encodes the alpha1-subunit of the inhibitory glycine receptor (GlyR), are the underlying causes in the majority of cases of hereditary startle disease (OMIM no. 149400). GlyRs are modulated by alcohols and volatile anesthetics, where a specific amino acid at position 267 has been implicated in receptor modulation.
Hans-Georg Breitinger +2 more
exaly +3 more sources
Genome-wide association studies for milk production traits and persistency of first calving Holstein cattle in Türkiye [PDF]
Frontiers in Veterinary ScienceThe study presents a comprehensive investigation into the genetic determinants of 100-day milk yield (100DMY), 305-day milk yield (305DMY), total milk yield (TMY), and persistency using first lactation records of 374 Holstein heifers reared in a private ...
Metin Erdoğan +6 more
doaj +2 more sources
Distinct phenotypes in zebrafish models of human startle disease [PDF]
Neurobiology of Disease, 2013 Startle disease is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-epileptic seizures, excessive muscle stiffness and neonatal apnea episodes.
Lisa R. Ganser +6 more
doaj +2 more sources
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 +2 more sources
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene? [PDF]
Seizure: the Journal of the British Epilepsy Association, 2018 Hyperekplexia (HPX) or startle disease is a rare hereditary neurological disorder characterized by generalized stiffness, excessive startle reflex to unexpected stimuli and a short period of generalized stiffness following the startle response, and can be complicated by umbilical or inguinal hernia, developmental delay and apnea spell.
Yajun Lian, Haifeng Zhang
exaly +3 more sources
Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene [PDF]
Neurobiology of Disease, 2011 Defects in glycinergic synaptic transmission in humans, cattle, and rodents result in an exaggerated startle reflex and hypertonia in response to either acoustic or tactile stimuli.
Jennifer L. Gill +7 more
doaj +2 more sources
Dimensional Traits of Schizotypy Associated With Glycine ReceptorGLRA1Polymorphism: An Exploratory Candidate-Gene Association Study [PDF]
Journal of Personality Disorders, 2018 Schizotypy captures the underlying genetic vulnerability to schizophrenia. However, the genetic underpinnings of schizotypy remain unexplored. The authors examined the relationship between single nucleotide poly-morphisms (SNPs) and schizotypy. A sample of 137 subjects (43 healthy controls, 34 subjects with schizotypal personality disorder [SPD], 32 ...
Anvi K, Vora +11 more
openaire +3 more sources