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The Turkish Journal of Pediatrics
Article . 2005
Data sources: DOAJ
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Startle disease-two sibling cases.

Authors: Elkay, M; Incecik, F; Herguner, MO; Leblebisatan, G; Altunbasak, S;

Startle disease-two sibling cases.

Abstract

Startle disease (hyperekplexia) is a rare non-epileptic disorder characterized by hypertonia, generalized stiffness and brief muscle jerks in response to unexpected auditory, somatosensory and visual stimuli. In this paper, two siblings with generalized stiffness and sudden muscle jerks to unexpected stimuli of various types are presented. They were previously misdiagnosed as epilepsy and treated with the conventional antiepileptic drugs. We wanted to call attention to and increase awareness of this rare disease and its differential diagnosis to avoid unnecessary investigations and treatment.

WOS: 000232646800014

PubMed ID: 16250316

Country
Turkey
Keywords

Male, Reflex, Startle, Epilepsy, Siblings, Startle, Infant, Pediatrics, RJ1-570, startle, Pedigree, Diagnosis, Differential, Hyperekplexia, hyperekplexia, differential diagnosis, Humans, Differential diagnosis, Child

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
gold