Results 161 to 170 of about 1,995 (192)
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Hyperekplexia and sudden neonatal death
Pediatric Neurology, 1992Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allowed for early recognition and treatment. During the first 24 hours of life, spontaneous apnea and sluggish feeding effort were observed. After the first 24 hours, surviving infants exhibited the hyperekplexic startle response to
M A, Nigro, H C, Lim
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Hyperekplexia: a treatable neurogenetic disease
Brain and Development, 2002Hyperekplexia is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. It can be associated with, if untreated, sudden infant death from apnea or aspiration pneumonia and serious injuries and loss of ambulation from frequent falls.
Lan, Zhou +2 more
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Physiological abnormalities in hereditary hyperekplexia
Annals of Neurology, 1992AbstractFive patients from a kindred with hereditary hyperekplexia had physiological testing. The surface‐recorded electromyographic pattern of audiogenic muscle jerks was identical to that of the normal acoustic startle reflex. Testing at graded stimulus intensities indicated an increase in the gain of the acoustic startle reflex.
J, Matsumoto +3 more
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Anesthetic Management of a Parturient with Hyperekplexia
A & A Case Reports, 2015Hyperekplexia is a hereditary disorder characterized by exaggerated startle reflex in response to unexpected acoustic, tactile, and other stimuli. Neonates with hyperekplexia may present with hypertonia, developmental delays, apnea, and sudden death. The diagnosis is based on published clinical criteria.
Anthony, Chau +3 more
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Hyperekplexia: A Single-Center Experience
Journal of Child NeurologyBackground Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia.
Merve Hilal Dolu +7 more
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Startle disease, or hyperekplexia
Annals of Neurology, 1984F, Andermann, E, Andermann
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Methylphenidate-Associated Hyperekplexia
American Journal of TherapeuticsAhmed, Naguy +3 more
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