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Journal Articles Neurology Year : 2021

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

Andrea Accogli
  • Function : Author
Gert Wiegand
Marcello Scala
  • Function : Author
Caterina Cerminara
Michele Iacomino
  • Function : Author
Antonella Riva
  • Function : Author
Barbara Carlini
  • Function : Author
Letizia Camerota
  • Function : Author
Vincenzo Belcastro
Paolo Prontera
  • Function : Author
Alberto Fernández-Jaén
Nerses Bebek
Paolo Scudieri
  • Function : Author
Simona Baldassari
  • Function : Author
Vincenzo Salpietro
  • Function : Author
Giuseppe Novelli
Chiara de Luca
  • Function : Author
Celina von Stülpnagel
  • Function : Author
Felicitas Kluger
  • Function : Author
Gerhard Josef Kluger
  • Function : Author
Gabriele Christine Wohlrab
  • Function : Author
Georgia Ramantani
David Lewis-Smith
Rhys H Thomas
Ming Lai
  • Function : Author
Alberto Verrotti
  • Function : Author
Salvatore Striano
  • Function : Author
Carlo Minetti
  • Function : Author
Fabio Benfenati
Francesco Brancati
Federico Zara
  • Function : Author
  • PersonId : 1371700
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 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.
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Origin : Publication funded by an institution
Licence : CC BY - Attribution

Dates and versions

hal-04534473 , version 1 (05-04-2024)

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Andrea Accogli, Gert Wiegand, Marcello Scala, Caterina Cerminara, Michele Iacomino, et al.. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. Neurology, 2021, 97, ⟨10.1212/wnl.0000000000012298⟩. ⟨hal-04534473⟩
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