Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Hyperexplexia: the startle disease].

I Melki1, E Rizkallah, C Akatcherian

  • 1Service de pédiatrie, Hôtel-Dieu de France, Beyrouth, Liban.

Pediatrie
|January 1, 1988
PubMed
Summary
This summary is machine-generated.

This report details a rare case of hyperexplexia, also known as "startle disease," in a newborn. This autosomal dominant condition presents with distinct neonatal physical features and an exaggerated startle response, confirmed by specific electromyogram patterns.

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Breaking bad news: an active learning method for medical students.

BMC medical education·2024
Same author

Potential association between M694V homozygous mutation in familial Mediterranean fever and eosinophilic intestinal inflammation: a pediatric case series.

Frontiers in pediatrics·2024
Same author

Acute bronchiolitis: Experience of home oxygen therapy in "Hospital at Home" care from 2012 to 2014: Home oxygen therapy in "Hospital at Home" for bronchiolitis.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2022
Same author

Cutaneous manifestations of monogenic auto-inflammatory diseases: An international cohort study from the Juvenile Inflammatory Rheumatism cohort.

Journal of the American Academy of Dermatology·2022
Same author

[Autoinflammatory diseases associated with RIPK1 mutations: A review of the literature].

La Revue de medecine interne·2022
Same author

[COVID-19 in children: SARS-CoV-2-related inflammatory multisystem syndrome mimicking Kawasaki disease].

Bulletin de l'Academie nationale de medecine·2021

Area of Science:

  • Neurology
  • Genetics
  • Neonatology

Background:

  • Hyperexplexia, or "startle disease," is an uncommon genetic disorder.
  • It is characterized by an exaggerated startle reflex.
  • The condition follows an autosomal dominant inheritance pattern.