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PubMed 23143726


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Title: Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.

Authors: Keung Kit Chan, Sharon Wan-Wah Cherk, Hencher Han-Chih Lee, Wing Tat Poon, Albert Yan-wo Chan

Journal, date & volume: J. Child Neurol., 2014 Jan , 29, 111-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23143726


Abstract
Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness following the startle response while patient cannot elicit voluntary movements. Awareness of this condition will avoid misdiagnosis of disorders like epilepsy. Clonazepam is an effective medical treatment. We report a patient whose frequent falls triggered by sudden noise or tactile stimuli was initially misdiagnosed as epilepsy. The clinical diagnosis was subsequently revised to hyperekplexia and confirmed by mutation analysis of the GLRA1 gene, which showed c.497G>C (p.Cys166Ser) and c.526delG (p.Asp176Metfs*16). Both of them are novel mutations. His response to clonazepam is dramatic and has been able to engage in sports and social activities.