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Hyperekplexia, hereditary 1; HKPX1

Disease ID:427
Name:Hyperekplexia, hereditary 1; HKPX1
Associated with:1 target
Hereditary hyperekplexia
Database Links
OMIM: 149400
Orphanet: ORPHA3197


glycine receptor α1 subunit
Role:  Around 20 α1 GlyR mutations have been identified to date in ~70 human hyperekplexia pedigrees. All known mutations reduce the magnitude of α1 GlyR-mediated currents, with some completely eliminating α1GlyR expression or function.
Drugs:  Clonazepam
Comments:  All mutations produce similar symptoms although the severity may vary. The main symptom in adults is an exaggerated and generalised startle reflex to unexpected and sometimes trivial stimuli. This is often accompanied by temporary but complete muscular rigidity, often resulting in unprotected falls. Neonates also usually display a severe muscular rigidity (hypertonia) that subsides throughout the first year of life.
References:  1


No ligand related data available for Hyperekplexia, hereditary 1; HKPX1


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1. Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. (2006) Startle syndromes. Lancet Neurol, 5 (6): 513-24. [PMID:16713923]