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

Topic mentions per year

Topic mentions per year

1967-2018
0102019672018

Papers overview

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Highly Cited
2007
Highly Cited
2007
OBJECTIVE To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome… (More)
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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… (More)
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Highly Cited
2004
Highly Cited
2004
Glycine receptors (GlyRs) and specific subtypes of GABA(A) receptors are clustered at synapses by the multidomain protein… (More)
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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… (More)
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2002
2002
Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by… (More)
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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… (More)
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Highly Cited
1997
Highly Cited
1997
Fast synaptic neurotransmission is mediated by transmitter-activated conformational changes in ligand-gated ion channel receptors… (More)
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1995
1995
Agonist binding to the inhibitory glycine receptor (GlyR) initiates the opening of a chloride-selective channel that modulates… (More)
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Highly Cited
1993
Highly Cited
1993
Hereditary hyperekplexia, or familial startle disease (STHE), is an autosomal dominant neurologic disorder characterized by… (More)
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1991
1991
The startle response to unexpected auditory and somaesthetic stimulation was studied in 8 patients with hereditary or symptomatic… (More)
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