Results 161 to 170 of about 1,995 (192)
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Hyperekplexia and sudden neonatal death

Pediatric Neurology, 1992
Fifteen 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
openaire   +2 more sources

Hyperekplexia: a treatable neurogenetic disease

Brain and Development, 2002
Hyperekplexia 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
openaire   +2 more sources

Physiological abnormalities in hereditary hyperekplexia

Annals of Neurology, 1992
AbstractFive 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
openaire   +2 more sources

Anesthetic Management of a Parturient with Hyperekplexia

A & A Case Reports, 2015
Hyperekplexia 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
openaire   +2 more sources

Hyperekplexia: A Single-Center Experience

Journal of Child Neurology
Background 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
openaire   +2 more sources

Neonatal Hyperekplexia

Journal of Neonatology, 2023
openaire   +1 more source

Startle disease, or hyperekplexia

Annals of Neurology, 1984
F, Andermann, E, Andermann
openaire   +2 more sources

Hyperekplexia

2010
Tijssen, Marina A. J., Bakker, Mirte J.
openaire   +2 more sources

Methylphenidate-Associated Hyperekplexia

American Journal of Therapeutics
Ahmed, Naguy   +3 more
openaire   +2 more sources

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