Results 11 to 20 of about 1,802 (202)
Pediatric Neurology Briefs, 1992 The August 1992 issue of Ped Neur Briefs included 3 articles on hyperekplexia.
J Gordon Millichap
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Pediatric Neurology Briefs, 1997 A newborn infant with neonatal sporadic hyperekplexia is reported from the Universita di Napoli Federico II, Italy.
J Gordon Millichap
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Hyperekplexia in neonates [PDF]
Postgraduate Medical Journal, 2001 Abstract Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus.
V, Praveen, S K, Patole, J S, Whitehall
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A Confusing Coincidence: Neonatal Hypoglycemic Seizures and Hyperekplexia [PDF]
Case Reports in Medicine, 2014 Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli.
Nihat Demir +5 more
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Startle Responses in Hereditary Hyperekplexia [PDF]
Archives of Neurology, 1997 Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor.To measure startle reflexes and autonomic ...
Tijssen, M.A.J. +3 more
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Sporadic hyperekplexia due to self-limiting brainstem encephalopathy
Neuropsychiatric Disease and Treatment, 2017 Dilek Yilmaz,1 Bülent Cengiz2 1Department of Neurology, Konya Numune State Hospital, Konya, 2Department of Neurology, Gazi University Faculty of Medicine, Ankara, Turkey Abstract: Hyperekplexia is a rare movement disorder characterized by ...
Yilmaz D, Cengiz B
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Hyperekplexia; Response to Clonazepam
Pediatric Neurology Briefs, 1992 Sixteen patients, including 1 neonate, in a large 5 generation family with hyperekplexia (startle disease or congenital stiff-man syndrome) were treated with clonazepam at the University of Texas Health Science Center, San Antonio, TX.
J Gordon Millichap
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A child with hyperekplexia and epileptic myoclonus [PDF]
Epileptic Disorders, 2018 ABSTRACTHyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life‐threatening apnoea. We report a novel case of concomitant GLRA1‐related hyperkeplexia and myoclonic epilepsy.
Lara, Wadi +2 more
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Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
Pediatric Neurology Briefs, 2013 Investigators at Swansea University and other centers in the UK, Australia, and Belgium studied the genotype-phenotype correlations in 97 individuals with a clinical diagnosis of hyperekplexia; 61 cases had mutations in GLRA1, 24 cases in SLC6A5 and 12 ...
J Gordon Millichap
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Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]
Clin Case RepABSTRACT Auditory‐triggered motor events in infancy present a significant diagnostic challenge due to overlap between epileptic and non‐epileptic startle phenomena. We report the case of a term female infant with neonatal‐onset seizures and subsequent development of reproducible sound‐triggered jerky movements, raising diagnostic uncertainty between ...
Pandit A +5 more
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