Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2025 Feb 8:29:100751.
doi: 10.1016/j.ebr.2025.100751. eCollection 2025 Mar.

Gelastic spells in Angelman Syndrome, when laughter isn't funny

Affiliations
Case Reports

Gelastic spells in Angelman Syndrome, when laughter isn't funny

Natasha Varughese et al. Epilepsy Behav Rep. .

Abstract

Angelman syndrome (AS) is a neurodevelopmental syndrome characterized by people with a characteristic happy demeanor, impaired expressive communication, sleep disruptions, and a variety of paroxysmal events, including seizures and movement disorders. Herein, we report three cases, one child and two adults with AS, of gelastic (laugh-related) spells. The phenomenology in all three is most consistent with gelastic syncope. A fourth example demonstrating transient breath-holding while laughing is included for reference. We subsequently review the differential for gelastic spells in AS, including seizures and cataplexy, and expound on the importance of their identification in the context of risk factors for cardiac arrhythmia. This work adds gelastic syncope to the list of paroxysmal events in AS and may serve to inform providers and parents of this phenotype and provide guidance for subsequent evaluation and treatment if indicated.

Keywords: Angelman Syndrome; Cataplexy; Gelastic seizures; Gelastic syncope; Laughter.

PubMed Disclaimer

Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Robert P Carson reports financial support was provided by Angelman Syndrome Foundation. Robert P Carson reports a relationship with Roche that includes: travel reimbursement. Submitting author has been the local PI for studies on Angelman Syndrome funded by Ovid Pharmaceuticals and Roche Pharmaceuticals. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

References

    1. Williams C.A., Driscoll D.J., Dagli A.I. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385–395. - PubMed
    1. Worden L., et al. Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. Epilepsy Behav. 2018;82:74–80. - PubMed
    1. Thibert R.L., et al. Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009;50(11):2369–2376. - PubMed
    1. Guaranha M.S., et al. Hyperventilation revisited: physiological effects and efficacy on focal seizure activation in the era of video-EEG monitoring. Epilepsia. 2005;46(1):69–75. - PubMed
    1. Téllez-Zenteno J.F., Serrano-Almeida C., Moien-Afshari F. Gelastic seizures associated with hypothalamic hamartomas. An update in the clinical presentation, diagnosis and treatment. Neuropsychiatr Dis Treat. 2008;4(6):1021–1031. - PMC - PubMed

Publication types

LinkOut - more resources