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  • Title: [Hyperekplexia -- a treatable neuropediatric disease].
    Author: Freilinger M, Jalowetz S, Reiter E, Schubert MT, Seidl R.
    Journal: Klin Padiatr; 2005; 217(4):220-1. PubMed ID: 16032547.
    Abstract:
    Hyperekplexia (OMIM 138491) is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. If untreated it can be associated with sudden infant death from apnea or aspiration pneumonia and serious injuries. Different mutations of the alpha1-subunit of inhbitory glyzine receptor (GLRA1) could be found. Clonazepame, a gammaaminobutyric acid (GABA) receptor agonist is the therapy of choice. An early diagnose will lead to appropriate treatment and genetic counseling.
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