Hyperekplexia 2

Common Name(s)

Hyperekplexia 2

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperekplexia 2" 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 2" returned 2 free, full-text research articles on human participants. First 3 results:

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.
 

Author(s): Esther Arribas-González, Jaime de Juan-Sanz, Carmen Aragón, Beatriz López-Corcuera

Journal: J. Biol. Chem.. 2015 Jan;290(4):2150-65.

 

Hyperekplexia or startle disease is a rare clinical syndrome characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. This neurological disorder can have serious consequences in neonates, provoking brain damage and/or sudden death due to apnea episodes ...

Last Updated: 31 Dec 1969

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Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.
 

Author(s): Klaus Hirzel, Ulrike Müller, A Tobias Latal, Swen Hülsmann, Joanna Grudzinska, Mathias W Seeliger, Heinrich Betz, Bodo Laube

Journal: Neuron. 2006 Nov;52(4):679-90.

 

Zn(2+) is thought to modulate neurotransmission by affecting currents mediated by ligand-gated ion channels and transmitter reuptake by Na(+)-dependent transporter systems. Here, we examined the in vivo relevance of Zn(2+) neuromodulation by producing knockin mice carrying the mutation ...

Last Updated: 31 Dec 1969

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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 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.