Hyperekplexia hereditary

Common Name(s)

Hyperekplexia hereditary

Hereditary hyperekplexia is an inherited condition that is usually evident in infants. Symptoms include increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which can be fatal. This may explain some cases of sudden infant death syndrome (SIDS). Symptoms typically fade by age 1. However, older individuals with this condition may still startle easily and have periods of rigidity. Others may have a low tolerance for crowded places and loud noises. This condition has different inheritance patterns and is associated with mutations in at least five genes.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperekplexia hereditary" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperekplexia hereditary" returned 6 free, full-text research articles on human participants. First 3 results:

β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.
 

Author(s): Qiang Shan, Lu Han, Joseph W Lynch

Journal: PLoS ONE. 2011 ;6(11):e28105.

 

Hereditary hyperekplexia, or startle disease, is a neuromotor disorder caused mainly by mutations that either prevent the surface expression of, or modify the function of, the human heteromeric α1 β glycine receptor (GlyR) chloride channel. There is as yet no explanation as to why ...

Last Updated: 1 Dec 2011

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A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.
 

Author(s): E M del Giudice, G Coppola, G Bellini, G Cirillo, G Scuccimarra, A Pascotto

Journal: Eur. J. Hum. Genet.. 2001 Nov;9(11):873-6.

 

We investigated the molecular basis of hyperekplexia (STHE), an inherited neurological disorder characterised by neonatal hypertonia and an exaggerated startle response, in a kindred and identified a novel missense mutation in the pore-lining M2 domain of the alpha1 subunit of the ...

Last Updated: 8 Jan 2002

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Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.
 

Author(s): J B Kwok, S Raskin, G Morgan, S A Antoniuk, I Bruk, P R Schofield

Journal: J. Med. Genet.. 2001 Jun;38(6):E17.

 

Last Updated: 4 Jun 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperekplexia hereditary" returned 1 free, full-text review articles on human participants. First 3 results:

[Molecular bases of hereditary hyperekplexia].
 

Author(s): C Giménez, F Zafra, B López-Corcuera, C Aragón

Journal: Rev Neurol. ;47(12):648-52.

 

Hereditary hyperekplexia is a rare clinical syndrome typically characterized by sudden and generalized startle in response to trivial but unexpected tactile or acoustic stimulations. Typically it is accompanied by a temporally but complete muscular rigidly, and usually it manifests ...

Last Updated: 16 Dec 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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