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Hyperexplexia
Known as:
Hyperekplexias
, startle disease
, startle syndrome
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A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
National Institutes of Health
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9 relations
ASPARAGINE SYNTHETASE DEFICIENCY
In Blood
Jumping Frenchmen of Maine
Microbiological
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Papers overview
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2013
2013
Phobic anxiety disorder in hereditary hyperekplexia - Comorbidity or a coincidence: Case reports of two siblings
Sujita Kumar Kar
,
Shashwat Saxena
,
B. Gupta
2013
Corpus ID: 46722109
Hyperekplexia (startle disease) is a rare non-epileptic neurological entity resulting from gene mutation. The onset of this…
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2013
2013
Voltage-clamp fluorometry of glycine receptors: Relevance to pain and startle disease
Lu Han
2013
Corpus ID: 92681034
2010
2010
PATH40 Spectrum of clinical disease in hyperekplexia: the genotypes and phenotypes of 48 cases
R. Thomas
,
S. Chung
,
C. L. Hammond
,
A. Robinson
,
M. Rees
Journal of Neurology Neurosurgery & Psychiatry
2010
Corpus ID: 53764703
Hyperekplexia is a rare, potentially treatable neurogenetic condition: two major genes of effect are described—one postsynaptic…
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2007
2007
Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case.
Chao-Huei Chen
,
Hsiu-Fen Lee
,
Ching-Shiang Chi
Acta paediatrica Taiwanica = Taiwan er ke yi xue…
2007
Corpus ID: 29249038
Herein we report a case of a male infant with hyperekplexia. He was born after an uneventful pregnancy to healthy unrelated…
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2006
2006
STARTLING SYNCOPES: ELECTROCLINICAL FEATURES OF A NEW TYPE OF HYPEREKPLEXIA
J. Stephenson
,
S. Zuberi
,
M. Rees
2006
Corpus ID: 75212027
2000
2000
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).
M. Rees
,
T. Lewis
,
G. Mortier
,
R. Snell
,
P. Schofield
,
M. Owen
2000
Corpus ID: 89116317
2000
2000
Functional analysis of compound heterozygosity in hyperekplexia mutations of the human glycine receptor alpha 1 subunit.
R. Rea
,
M. Tijssen
,
A. Spauschus
,
D. Kullmann
2000
Corpus ID: 88836575
1994
1994
Analysis of GLRA 1 in familial and sporadic hyperekplexia
F. Elmslie
,
M. Rees
,
A. Covanis
1994
Corpus ID: 81539175
Hyperekplexia or familial startle syndrome is an autosomal dominant condition, causing an exaggerated startle response to…
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1980
1980
Startle disease or hyperekplexia: future delineation of the syndrome
F. Andermann
,
D. Keene
,
L. Andermann
,
L. Quesney
1980
Corpus ID: 260491171
Apparatus for dispensing thick liquid-like products in comparatively small amounts while simultaneously mixing therewith an…
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1980
1980
The "startle disease" in brain-damaged patients: report of a case.
Baier Wk
1980
Corpus ID: 72453991
: It is reported about one case of so-called startle disease in brain-damaged patients in a 7 year-old girl. Furthermore, two…
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