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Article

The glycinergic system in human startle disease: a genetic screening approach

1 Jan 2010

Abstract excerpt

Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic stimuli which first presents as neonatal hypertonia, followed in some with episodes of life-threatening infantile apnoea. Genetic screening studies have...

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PMID: 20407582
DOI: 10.3389/fnmol.2010.00008

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The glycinergic system in human startle disease: a genetic screening approachPMID 20407582Read ↗

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