Clinical and genetic features in patients with reflex bathing epilepsy

Objective: To describe the clinical and genetic findings in a cohort of subjects with bathing epilepsy, a rare form of reflex epilepsy. Methods: We investigated by Sanger and targeted re-sequencing the SYN1 gene in 12 individuals from 10 different families presenting with seizures primarily triggered by bathing or showering. Additional twelve subjects 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, nine of which are novel. Conversely, none of the subjects with hot-water epilepsy displayed SYN1 variants. In mutated subjects, seizures were typically triggered by showering or bathing regardless of the water temperature. Additional triggers included fingernail-clipping, hair-cutting, or watching someone take a shower. Non-provoked seizures and a variable degree of developmental delay were also common. Conclusion: bathing epile...研究目的：本研究旨在描述一组沐浴性癫痫（bathing epilepsy）患者的临床与遗传学特征，该病是一种罕见的反射性癫痫亚型。 研究方法：本研究采用桑格测序（Sanger sequencing）与靶向重测序技术，对10个不同家系中的12名患者开展SYN1基因检测，这些患者的癫痫发作主要由沐浴或淋浴诱发。此外，本研究还对12名热水性癫痫患者进行了筛查。 研究结果：在所有沐浴性癫痫家系中，我们共鉴定出SYN1基因的8种明确致病或疑似致病变异，以及2种意义未明变异，其中9种为新发变异。与之相反，所有热水性癫痫患者均未检出SYN1基因变异。携带致病突变的患者，其癫痫发作通常由淋浴或沐浴诱发，且与水温无关。其他诱发因素还包括修剪指甲、理发或观看他人淋浴。此外，无诱因发作及不同程度的发育迟缓也较为常见。 研究结论：沐浴性癫痫...