Hereditary hyperekplexia due to Glycine receptor subunit mutations (Q83851): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Hiperecplexia hereditária caracterizada por 3 fatores: rigidez generalizada após nascimento; reflexo de sobressalto excessivo após estímulo imprevisível, particularmente estímulo auditivo; e rigidez generalizada após reflexo de sobressalto que dura poucos segundos. A forma hereditária é autossômica dominante e está associada a mutação do receptor da glicina.
@@ description / en / description / en @@
+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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+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
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@@ Property / Collection date: 13 August 2026 / rank @@
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Latest 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.

Language	Label	Description	Also known as
default for all languages	ID_693631704
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.