Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

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 regardl

SUBMITTER: Accogli A 

PROVIDER: S-EPMC8424500 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature