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 +9 more sources
Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease [PDF]
Frontiers in Molecular Neuroscience, 2021 Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, encoding glycine receptor (GlyR) α1 and β subunits, which enable fast synaptic inhibitory transmission in the spinal cord and brainstem.
Inken Piro +7 more
doaj +6 more sources
Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease [PDF]
Frontiers in Molecular Neuroscience, 2018 Mutations in GlyR α1 or β subunit genes in humans and rodents lead to severe startle disease characterized by rigidity, massive stiffness and excessive startle responses upon unexpected tactile or acoustic stimuli.
Natascha Schaefer +10 more
doaj +6 more sources
The effects of startle and non-startle auditory stimuli on wrist flexion movement in Parkinson's disease [PDF]
Neuroscience Letters, 2013 Startle stimuli lead to shorter reaction times in control subjects and Parkinson's disease (PD) patients. However, non-startle stimuli also enhance movement initiation in PD. We wanted to examine whether a startle-triggered movement would retain similar kinematic and EMG-related characteristics compared to one induced by a non-startle external cue in ...
MIGUEL Fernández-Del-Olmo +2 more
exaly +7 more sources
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease [PDF]
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 +5 more sources
The glycinergic system in human startle disease: a genetic screening approach [PDF]
Frontiers in Molecular Neuroscience, 2010 Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic
Jeff S Davies +11 more
doaj +9 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 +6 more sources
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report [PDF]
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 +3 more sources
Startle disease-two sibling cases
The Turkish Journal of Pediatrics, 2005 Startle disease (hyperekplexia) is a rare non-epileptic disorder characterized by hypertonia, generalized stiffness and brief muscle jerks in response to unexpected auditory, somatosensory and visual stimuli.
Mürüvet Elkay +4 more
doaj +8 more sources
Startle Disease: New Molecular Insights into an Old Neurological Disorder. [PDF]
Neuroscientist, 2023 Schaefer N, Harvey RJ, Villmann C.
europepmc +2 more sources