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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 427 | |
Name: | Hyperekplexia, hereditary 1; HKPX1 | |
Associated with: | 1 target |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖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 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Hyperekplexia, hereditary 1; HKPX1