Objective: To describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, a rare form of reflex epilepsy.
Methods: We investigated by Sanger and targeted resequencing the gene in 12 individuals from 10 different families presenting with seizures triggered primarily by bathing or showering. An additional 12 individuals with hot-water epilepsy were also screened.
Results: In all families with bathing epilepsy, we identified 8 distinct pathogenic or likely pathogenic variants and 2 variants of unknown significance in , 9 of which are novel. Conversely, none of the individuals with hot-water epilepsy displayed variants. In mutated individuals, seizures were typically triggered by showering or bathing regardless of the water temperature. Additional triggers included fingernail clipping, haircutting, or watching someone take a shower. Unprovoked seizures and a variable degree of developmental delay were also common.
Conclusion: Bathing epilepsy is genetically distinct reflex epilepsy caused mainly by mutations.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424500 | PMC |
| http://dx.doi.org/10.1212/WNL.0000000000012298 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Abnormal Astrocyte Heterogeneity in the Dentate Gyrus of Rats Prone to Audiogenic Seizures Can Be Corrected by the Nootropic Drug Piracetam.
Hippocampus
January 2025
Sechenov Institute of Evolutionary Physiology and Biochemistry, The Russian Academy of Sciences, Saint Petersburg, Russia.
Accumulating evidence indicates that inherited astrocyte dysfunction can be a primary trigger for epilepsy development; however, the available data are rather limited. In addition, astrocytes are considered as a perspective target for the design of novel and improvement of the existing antiepileptic therapy. Piracetam and related nootropic drugs are widely used in the therapy of various epileptic disorders, but detailed mechanisms of racetams action and, in particular, their effects on glial functions are poorly understood.
View Article and Find Full Text PDFChild Neurology: Neurophysiologic and Anatomical Correlates in Startle Epilepsy: A Comprehensive SEEG Investigation for Successful Resective Surgery.
Neurology
January 2025
From the Department of Neurological Surgery (J.K., S.H.H.), Asan Medical Center; and Department of Pediatrics (M.-J.K., M.-S.Y., T.-S.K.), Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
Startle epilepsy, characterized by startle-provoked epileptic seizures, was historically recognized as one of the reflex epilepsies but currently lacks classification as a specific epileptic syndrome because of insufficient characterization. This study presents an institutional experience and review of relevant literature focusing on the neurophysiologic and anatomical aspects of startle epilepsy. We describe a pediatric patient with an underlying structural etiology of left frontal encephalomalacia who continued to experience disabling seizures despite multiple antiseizure medications and previous palliative surgery.
View Article and Find Full Text PDFYield of Tilt Table Test in Diagnosing Syncope in Patients With Suspected Neurally Mediated Syncope.
Cardiol Res
December 2024
Biostatistics, Epidemiology, and Scientific Computing Department, King Faisal Specialist Hospital and Research Center (KFSH&RC), Riyadh, Saudi Arabia.
Background: Syncope is a common medical condition. The reflex or neurally mediated syncope (NMS) is the most frequent type. The tilt table test (TTT) helps distinguish syncope from other common causes of complete loss of consciousness, such as epilepsy, define syncope subtypes and guide management.
View Article and Find Full Text PDF[Epilepsy definitions, classifications, and epidemiology].
Rev Prat
November 2024
Unité d'épilepsie et de réhabilitation neurologique, hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France. Centre de recherche de l'Institut du cerveau et de la moelle épinière (ICM), UMPC-UMR 7225 CNRS-UMRS 975 Inserm, Paris, France. Université Paris Sorbonne, France.
EPILEPSY DEFINITIONS, CLASSIFICATIONS AND EPIDEMIOLOGY. Epilepsy is the most common neurological disease in the world and the second most common in France. It is defined by the occurrence of 2 unprovoked (or reflex) epileptic seizures more than 24 hours apart, or by the occurrence of an unprovoked (or reflex) epileptic seizure with a recurrence probability of at least 60%.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!