Hereditary hyperekplexia due to Glycine receptor subunit mutations (Q83851): Difference between revisions
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Revision as of 09:13, 15 August 2026
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation.
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| English | Hereditary hyperekplexia due to Glycine receptor subunit mutations |
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation. |
