Results 151 to 160 of about 1,802 (202)
Neonatal Seizures in Low- and Middle-Income Countries: A Review of the Literature and Recommendations for the Management. [PDF]
Turk Arch PediatrSpenard S +2 more
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Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease. [PDF]
Biochem Soc TransBaker MJ, Yek KQ, Stojanovski D.
europepmc +1 more source
Structural basis for domain coupling in heteromeric glycine receptors revealed by an atypical allosteric agonist. [PDF]
Sci AdvGibbs E +5 more
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A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography. [PDF]
BMC Pregnancy ChildbirthPan T +7 more
europepmc +1 more source
An unusual case of hyperekplexia
European Journal of Paediatric Neurology, 2000 Hyperekplexia is a rare paroxysmal disorder characterized by exaggerated startle response, hypertonia during infancy and a transient increase in tone following startle attacks. We report an unusual case of hyperekplexia in a young man. In addition to common symptoms of the condition, we found generalized spasticity persisting beyond infancy, and facial
Heinz Jungbluth +2 more
exaly +5 more sources
Saccadic eye movements in hyperekplexia
Movement Disorders, 1995 AbstractHyperekplexia is an autosomal dominant disorder characterized by excessive startle responses followed by a temporary generalized stiffness. The startle response is generated in the medial bulbopontine reticular formation in the lower brainstem.
E Bollen, J G Van Dijk
exaly +7 more sources
Hyperekplexia-associated mutations in the neuronal glycine transporter 2 [PDF]
Neurochemistry International, 2019 Hyperekplexia or startle disease is a dysfunction of inhibitory glycinergic neurotransmission characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli.
BEATRIZ López‑Corcuera +1 more
exaly +2 more sources
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Journal of Child Neurology, 2012
Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness ...
Keung Kit, Chan +4 more
openaire +3 more sources
Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness ...
Keung Kit, Chan +4 more
openaire +3 more sources
Hereditary Hyperekplexia in Saudi Arabia
Pediatric Neurology, 2022Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity.We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a ...
Heba Y El Khashab +2 more
exaly +3 more sources
Hyperekplexia and other startle syndromes
Journal of the Neurological Sciences, 2020Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause. Hereditary hyperekplexia is a treatable neurogenetic disorder.
Arushi Gahlot Saini, Sanjay Pandey
exaly +3 more sources