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Hyperexplexia

Known as: Hyperekplexias, startle disease, startle syndrome 
A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
The strychnine-sensitive glycine receptor (GlyR) mediates inhibitory synaptic transmission in the spinal cord and brainstem and… Expand
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Review
2009
Review
2009
Chloride channels represent a relatively under-explored target class for drug discovery as elucidation of their identity and… Expand
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Highly Cited
2009
Highly Cited
2009
Clustering of inhibitory gamma-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key… Expand
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Highly Cited
2006
Highly Cited
2006
Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense… Expand
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Review
2005
Review
2005
Glycine has important neurotransmitter functions at inhibitory and excitatory synapses in the vertebrate central nervous system… Expand
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Review
2004
Review
2004
The glycine receptor chloride channel (GlyR) is a member of the nicotinic acetylcholine receptor family of ligand-gated ion… Expand
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Highly Cited
2004
Highly Cited
2004
Glycine receptors (GlyRs) and specific subtypes of GABAA receptors are clustered at synapses by the multidomain protein gephyrin… Expand
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Highly Cited
2003
Highly Cited
2003
The glycine transporter subtype 2 (GlyT2) is localized in the axon terminals of glycinergic neurons. Mice deficient in GlyT2 are… Expand
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Review
2001
Review
2001
  • Pascal Legendre
  • Cellular and Molecular Life Sciences CMLS
  • 2001
  • Corpus ID: 24543694
Abstract. Glycine is one of the most important inhibitory neurotransmitters in the spinal cord and the brainstem, and glycinergic… Expand
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Highly Cited
1998
Highly Cited
1998
Glycine receptors are anchored at inhibitory chemical synapses by a cytoplasmic protein, gephyrin. Molecular cloning revealed the… Expand
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