Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a...
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually subside during the first months of life. Although the diagnosis of Hyperekplexia is based on clinical findings,...
Alternative Titles
Full title
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_94b969204b944026801069b91829d8ce
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_94b969204b944026801069b91829d8ce
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-019-0779-x
