Cargando…

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

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 primar...

Descripción completa

Detalles Bibliográficos
Autores principales: Accogli, Andrea, Wiegand, Gert, Scala, Marcello, Cerminara, Caterina, Iacomino, Michele, Riva, Antonella, Carlini, Barbara, Camerota, Letizia, Belcastro, Vincenzo, Prontera, Paolo, Fernández-Jaén, Alberto, Bebek, Nerses, Scudieri, Paolo, Baldassari, Simona, Salpietro, Vincenzo, Novelli, Giuseppe, De Luca, Chiara, von Stülpnagel, Celina, Kluger, Felicitas, Kluger, Gerhard Josef, Wohlrab, Gabriele Christine, Ramantani, Georgia, Lewis-Smith, David, Thomas, Rhys H., Lai, Ming, Verrotti, Alberto, Striano, Salvatore, Depienne, Christel, Minetti, Carlo, Benfenati, Fabio, Brancati, Francesco, Zara, Federico, Striano, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424500/
https://www.ncbi.nlm.nih.gov/pubmed/34078716
http://dx.doi.org/10.1212/WNL.0000000000012298
_version_ 1783749686878797824
author Accogli, Andrea
Wiegand, Gert
Scala, Marcello
Cerminara, Caterina
Iacomino, Michele
Riva, Antonella
Carlini, Barbara
Camerota, Letizia
Belcastro, Vincenzo
Prontera, Paolo
Fernández-Jaén, Alberto
Bebek, Nerses
Scudieri, Paolo
Baldassari, Simona
Salpietro, Vincenzo
Novelli, Giuseppe
De Luca, Chiara
von Stülpnagel, Celina
Kluger, Felicitas
Kluger, Gerhard Josef
Wohlrab, Gabriele Christine
Ramantani, Georgia
Lewis-Smith, David
Thomas, Rhys H.
Lai, Ming
Verrotti, Alberto
Striano, Salvatore
Depienne, Christel
Minetti, Carlo
Benfenati, Fabio
Brancati, Francesco
Zara, Federico
Striano, Pasquale
author_facet Accogli, Andrea
Wiegand, Gert
Scala, Marcello
Cerminara, Caterina
Iacomino, Michele
Riva, Antonella
Carlini, Barbara
Camerota, Letizia
Belcastro, Vincenzo
Prontera, Paolo
Fernández-Jaén, Alberto
Bebek, Nerses
Scudieri, Paolo
Baldassari, Simona
Salpietro, Vincenzo
Novelli, Giuseppe
De Luca, Chiara
von Stülpnagel, Celina
Kluger, Felicitas
Kluger, Gerhard Josef
Wohlrab, Gabriele Christine
Ramantani, Georgia
Lewis-Smith, David
Thomas, Rhys H.
Lai, Ming
Verrotti, Alberto
Striano, Salvatore
Depienne, Christel
Minetti, Carlo
Benfenati, Fabio
Brancati, Francesco
Zara, Federico
Striano, Pasquale
author_sort Accogli, Andrea
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8424500
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Lippincott Williams & Wilkins
record_format MEDLINE/PubMed
spelling pubmed-84245002021-09-08 Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy Accogli, Andrea Wiegand, Gert Scala, Marcello Cerminara, Caterina Iacomino, Michele Riva, Antonella Carlini, Barbara Camerota, Letizia Belcastro, Vincenzo Prontera, Paolo Fernández-Jaén, Alberto Bebek, Nerses Scudieri, Paolo Baldassari, Simona Salpietro, Vincenzo Novelli, Giuseppe De Luca, Chiara von Stülpnagel, Celina Kluger, Felicitas Kluger, Gerhard Josef Wohlrab, Gabriele Christine Ramantani, Georgia Lewis-Smith, David Thomas, Rhys H. Lai, Ming Verrotti, Alberto Striano, Salvatore Depienne, Christel Minetti, Carlo Benfenati, Fabio Brancati, Francesco Zara, Federico Striano, Pasquale Neurology Research Article 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. Lippincott Williams & Wilkins 2021-08-10 /pmc/articles/PMC8424500/ /pubmed/34078716 http://dx.doi.org/10.1212/WNL.0000000000012298 Text en Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Accogli, Andrea
Wiegand, Gert
Scala, Marcello
Cerminara, Caterina
Iacomino, Michele
Riva, Antonella
Carlini, Barbara
Camerota, Letizia
Belcastro, Vincenzo
Prontera, Paolo
Fernández-Jaén, Alberto
Bebek, Nerses
Scudieri, Paolo
Baldassari, Simona
Salpietro, Vincenzo
Novelli, Giuseppe
De Luca, Chiara
von Stülpnagel, Celina
Kluger, Felicitas
Kluger, Gerhard Josef
Wohlrab, Gabriele Christine
Ramantani, Georgia
Lewis-Smith, David
Thomas, Rhys H.
Lai, Ming
Verrotti, Alberto
Striano, Salvatore
Depienne, Christel
Minetti, Carlo
Benfenati, Fabio
Brancati, Francesco
Zara, Federico
Striano, Pasquale
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
title Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
title_full Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
title_fullStr Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
title_full_unstemmed Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
title_short Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
title_sort clinical and genetic features in patients with reflex bathing epilepsy
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424500/
https://www.ncbi.nlm.nih.gov/pubmed/34078716
http://dx.doi.org/10.1212/WNL.0000000000012298
work_keys_str_mv AT accogliandrea clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT wiegandgert clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT scalamarcello clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT cerminaracaterina clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT iacominomichele clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT rivaantonella clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT carlinibarbara clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT camerotaletizia clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT belcastrovincenzo clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT pronterapaolo clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT fernandezjaenalberto clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT bebeknerses clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT scudieripaolo clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT baldassarisimona clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT salpietrovincenzo clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT novelligiuseppe clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT delucachiara clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT vonstulpnagelcelina clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT klugerfelicitas clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT klugergerhardjosef clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT wohlrabgabrielechristine clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT ramantanigeorgia clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT lewissmithdavid clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT thomasrhysh clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT laiming clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT verrottialberto clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT strianosalvatore clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT depiennechristel clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT minetticarlo clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT benfenatifabio clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT brancatifrancesco clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT zarafederico clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy
AT strianopasquale clinicalandgeneticfeaturesinpatientswithreflexbathingepilepsy