Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

Andrea Accogli, Gert Wiegand, Marcello Scala, Caterina Cerminara, Michele Iacomino, Antonella Riva, Barbara Carlini, Letizia Camerota, Vincenzo Belcastro, Paolo Prontera, Alberto Fernández-Jaén, Nerses Bebek, Paolo Scudieri, Simona Baldassari, Vincenzo Salpietro, Giuseppe Novelli, Chiara De Luca, Celina von Stülpnagel, Felicitas Kluger, Gerhard Josef KlugerGabriele Christine Wohlrab, Georgia Ramantani, David Lewis-Smith, Rhys H. Thomas, Ming Lai, Alberto Verrotti, Salvatore Striano, Christel Depienne, Carlo Minetti, Fabio Benfenati, Francesco Brancati, Federico Zara, Pasquale Striano

Research output: Contribution to journalArticlepeer-review


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 SYN1 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 SYN1 , 9 of which are novel. Conversely, none of the individuals with hot-water epilepsy displayed SYN1 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 SYN1 mutations.
Original languageEnglish
Pages (from-to)e577-e586
Issue number6
Publication statusPublished - 2021


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