Results 151 to 160 of about 1,995 (192)
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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
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The Indian Journal of Pediatrics, 2006
Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder
M L, Kulkarni +2 more
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Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder
M L, Kulkarni +2 more
openaire +2 more sources
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
Clinical Neurology and Neurosurgery, 1997 Hyperekplexia (MIM: 149400): or startle disease, is an autosomal dominant neurological disorder characterized by an extreme generalized stiffness immediately after birth, normalizing during the first years of life.
R A Ophoff, M A J Tijssen, R R Frants
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Archives of Neurology, 1983
Hyperekplexia is a hereditary neurologic disorder manifested by an exaggerated startle response, generalized muscular rigidity, and prominent nocturnal myoclonus. The distinctive features of this syndrome constitute an unusual clinical entity that is easily mistaken for other disorders.
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Hyperekplexia is a hereditary neurologic disorder manifested by an exaggerated startle response, generalized muscular rigidity, and prominent nocturnal myoclonus. The distinctive features of this syndrome constitute an unusual clinical entity that is easily mistaken for other disorders.
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Epileptic Disorders, 2004
ABSTRACT We report on the case of an 86‐year‐old woman who rapidly became unable to stand and walk because of jerky movements, suggesting a clinical diagnosis of myoclonus. It was observed that both unexpected and expected stimuli (audiogenic, tactile, or visual) triggered the myoclonic jerks.
Sophie, Hamelin +4 more
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ABSTRACT We report on the case of an 86‐year‐old woman who rapidly became unable to stand and walk because of jerky movements, suggesting a clinical diagnosis of myoclonus. It was observed that both unexpected and expected stimuli (audiogenic, tactile, or visual) triggered the myoclonic jerks.
Sophie, Hamelin +4 more
openaire +2 more sources
Neurology India, 2022
Hyperekplexia, an underdiagnosed motor paroxysm of infancy, mimics epilepsy closely. It is hallmarked by episodic and excessive startle response, brief episodes of intense, generalized hypertonia, or stiffness in response to unexpected auditory and/or tactile stimuli right from birth.
Juhi, Gupta +5 more
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Hyperekplexia, an underdiagnosed motor paroxysm of infancy, mimics epilepsy closely. It is hallmarked by episodic and excessive startle response, brief episodes of intense, generalized hypertonia, or stiffness in response to unexpected auditory and/or tactile stimuli right from birth.
Juhi, Gupta +5 more
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Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review
Journal of Child NeurologyHyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following
Vincenzo Sortino
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Neonatal Hyperekplexia: A Case Report
Epilepsia, 1992Summary: We report the case of a baby with transient generalized stiffness noticeable from the first days of life, hyperreflexia, massive jerks in response to sudden tactile and acoustic stimuli, and long‐lasting myoclonic jerks closely resembling epileptic seizures. The father and paternal grandfather both had hyperekplexia. At age 3 years, the child
PASCOTTO, Antonio, COPPOLA G.
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The effects of clonazepam and vigabatrin in hyperekplexia
Journal of the Neurological Sciences, 1997Hyperekplexia is an autosomal dominant disorder caused by a point mutation in the alpha1 subunit of the glycine receptor, characterized by excessive startle responses followed by temporary generalized stiffness. Clonazepam, effective in open case studies, potentiates, through unknown mechanisms, the neurotransmitter gamma-aminobutyric acid (GABA ...
Tijssen, M. A. +5 more
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Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, 1994
The paper reports a case of a rare neurological syndrome, hyperekplexia. A 46[correction of 38]-year-old man had secondary hyperekplexia in the presence of unusual associated clinical symptoms (periodical kinesiogenic dystonia and episodes of severe laryngospasms) and mild circulatory disorder in the brain trunk area.
O R, Orlova, V L, Golubev, D V, Artem'ev
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The paper reports a case of a rare neurological syndrome, hyperekplexia. A 46[correction of 38]-year-old man had secondary hyperekplexia in the presence of unusual associated clinical symptoms (periodical kinesiogenic dystonia and episodes of severe laryngospasms) and mild circulatory disorder in the brain trunk area.
O R, Orlova, V L, Golubev, D V, Artem'ev
openaire +1 more source