TY - JOUR
T1 - Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
AU - Accogli, Andrea
AU - Wiegand, Gert
AU - Scala, Marcello
AU - Cerminara, Caterina
AU - Iacomino, Michele
AU - Riva, Antonella
AU - Carlini, Barbara
AU - Camerota, Letizia
AU - Belcastro, Vincenzo
AU - Prontera, Paolo
AU - Fernández-Jaén, Alberto
AU - Bebek, Nerses
AU - Scudieri, Paolo
AU - Baldassari, Simona
AU - Salpietro, Vincenzo
AU - Novelli, Giuseppe
AU - De Luca, Chiara
AU - von Stülpnagel, Celina
AU - Kluger, Felicitas
AU - Kluger, Gerhard Josef
AU - Wohlrab, Gabriele Christine
AU - Ramantani, Georgia
AU - Lewis-Smith, David
AU - Thomas, Rhys H.
AU - Lai, Ming
AU - Verrotti, Alberto
AU - Striano, Salvatore
AU - Depienne, Christel
AU - Minetti, Carlo
AU - Benfenati, Fabio
AU - Brancati, Francesco
AU - Zara, Federico
AU - Striano, Pasquale
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - imp
U2 - 10.1212/WNL.0000000000012298
DO - 10.1212/WNL.0000000000012298
M3 - Article
SN - 0028-3878
VL - 97
SP - e577-e586
JO - Neurology
JF - Neurology
IS - 6
ER -