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Startle disease or hyperekplexia: Adolescent onset and response to valproate
Pediatric Neurology, 1989We report a boy with rigidity and hyperekplexia or startle disease which began in adolescence. His symptoms completely resolved with valproic acid therapy. Two relatives have the minor form of this disorder, suggesting autosomal dominant inheritance with variable penetrance.
J M, Dooley, F, Andermann
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[Hyperexplexia: the startle disease].
Pediatrie, 1988A case of hyperexplexia is reported in a newborn. Hyperexplexia or "startle disease" is very uncommon and is of autosomal dominant transmission. Clinical features consist in particular physical features during the neonatal period and subsequently in an abnormal startle reaction; the electromyogram shows particular patterns.
I, Melki, E, Rizkallah, C, Akatcherian
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Startle disease, or hyperekplexia
Annals of Neurology, 1984F, Andermann, E, Andermann
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Hyperekplexia (Startle Disease)
Molecular Diagnosis, 2003We report on a novel mutation (S270T) in the M2 domain of the GLRA1 (alpha subunit of the glycine receptor) gene causing autosomal dominant hyperekplexia in a neonate, the mother and maternal uncle. All affected members showed the typical clinical features of the disorder.
Pablo, Lapunzina +8 more
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[Startle disease: growing rigid with fear].
Nederlands tijdschrift voor geneeskunde, 1995Hyperekplexia or startle disease was diagnosed in four patients, a girl of 14 months, two men of 45 and 61 years old, and a woman of 56 years old. This is an autosomal dominant inherited disorder, characterized by excessive startle reactions, notably to auditory stimuli.
M A, Tijssen +3 more
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THE "STARTLE DISEASE" IN BRAIN-DAMAGED PATIENTS: REPORT OF A CASE
Neuropediatrics, 1980It is reported about one case of so-called startle disease in brain-damaged patients in a 7 year-old girl. Furthermore, two related, non-epileptic paroxysmal startle syndromes, the "essential startle disease" and the "hereditary startle syndrome" are described and contrasted with "epileptic seizures induced by unexpected sensory stimuli" or "startle ...
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The effects of startle and non-startle stimuli on wrist flexion movement in Parkinson's disease
2018Efectos del startle reflex en el movimiento de flexión de muñeca en pacientes de ...
Fernández del Olmo, Miguel +6 more
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The startle disease or hyperekplexia
Journal of the Neurological Sciences, 1967H. Gastaut, A. Villeneuve
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Startle Disease of Hyperekplexia
Developmental Medicine & Child Neurology, 1993openaire +2 more sources