Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Startle syndromes.

Mirte J Bakker¹, J Gert van Dijk, Arn M J M van den Maagdenberg

¹Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

The Lancet. Neurology

|May 23, 2006

Summary

This summary is machine-generated.

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

Endocannabinoid cerebrospinal fluid levels in migraine and its relation to symptoms of depression.

Cephalalgia : an international journal of headache·2026

Same author

Haemodynamics of (pre)syncope during carotid sinus massage: a beat-to-beat analysis of haemodynamic parameters during carotid sinus massage.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society·2026

Same author

Orthostatic hypotension and complaints: not a clear-cut relation.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society·2026

Same author

Determinants of carotid sinus hypersensitivity in patients with suspected reflex syncope.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society·2026

Same author

From bench to bedside: relevant animal models across the migraine attack phases.

The journal of headache and pain·2026

Same author

Impact of cenobamate on cortical responses to transcranial magnetic stimulation in people with drug-resistant focal epilepsy.

Epilepsia open·2026

Startle syndromes encompass disorders like hyperekplexia, characterized by abnormal responses to startling events. Genetic factors influence major hyperekplexia, while other forms remain less understood.

Area of Science:

Neurology
Genetics
Clinical Medicine

Background:

Startle syndromes are a group of heterogeneous disorders.
These disorders involve abnormal responses to startling stimuli.
Hyperekplexia, a major type, presents with neonatal stiffness and falls.

Purpose of the Study:

To categorize and describe the different types of startle syndromes.
To highlight the genetic basis of major hyperekplexia.
To outline diagnostic approaches for startle syndromes.

Main Methods:

Clinical history evaluation.
Electromyographic (EMG) studies.
Genetic screening for gene mutations.

Main Results:

Related Experiment Videos

Startle syndromes are classified into three groups: hyperekplexia (major/minor), neuropsychiatric, and other stimulus-induced responses.
Major hyperekplexia is linked to mutations in the glycine receptor gene (GLRA1).
Minor hyperekplexia lacks a known genetic cause or pathophysiology.

Conclusions:

Startle syndromes are diverse, including genetic and non-genetic forms.
Accurate diagnosis relies on clinical, electrophysiological, and genetic data.
Further research is needed to better differentiate these conditions.