Results 171 to 180 of about 1,802 (202)
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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 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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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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Startle Disease of Hyperekplexia
Developmental Medicine & Child Neurology, 1993openaire +2 more sources
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia
Biochemical and Biophysical Research Communications, 2006Volker Eulenburg +2 more
exaly
Methylphenidate-Associated Hyperekplexia
American Journal of TherapeuticsAhmed, Naguy +3 more
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