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, Sımona Baldassari, Vincenzo Salpietro, Giuseppe Novelli, Chiara De Luca, Celina von Stülpnagel, Felicitas E. Kluger, Gerhard Kluger, Gabriele 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
Abstract
OBJECTIVE: To describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, a rare form of reflex epilepsy. METHODS: 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: 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: mutations.