Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital

• Published in: Journal of central nervous system disease 2022, Vol.14, p.11795735211060114-11795735211060114
• Main Authors: Arenas-Cabrera, Carmen, Baena-Palomino, Pablo, Sánchez-García, Javier, Oliver-Romero, María, Chocrón-González, Yamin, Caballero-Martínez, Manuel
• Format: Article
• Language: English
• Subjects: Case Series; Cognitive ability; Comorbidity; Diagnosis; EEG; Epilepsy; Genetic counseling; Genetic screening; Mutation; Seizures; Sleep
• ISSN: 1179-5735; 1179-5735
• DOI: 10.1177/11795735211060114

Introduction Sleep-related hypermotor epilepsy (SHE) is characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. Experts agree that SHE should be considered a unique syndrome. PURPOSE We present 8 cases of SHE for which a genetic diagnosis was carried out using a multigene epilepsy panel. Methods We retrospectively screened familial and isolated cases of SHE in current follow-ups in our center. Results We included 8 (5F/3M) patients, 5 of whom had a positive familial history of epilepsy. We identified a pathogenic mutation in CHRNA4, CHRNB2, and 3 different pathogenic changes in DEPDC5. Conclusions Awareness of SHE needs to be raised, given its implications for finding an appropriate treatment, its relationship to cognitive and psychiatric comorbidities, and the opportunity to prevent the disorder in the descendants. We present our series with their clinical, radiological, electroencephalographic, and genetic characteristics, in which we found 3 pathogenic mutations in the DEPDC5 gene but not previously reported in the literature. Identifying new pathogenic mutations or new genes responsible for SHE will facilitate a better understanding of the disease and a correct genetic counseling.