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

ABSTRACT:

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 a

SUBMITTER: Arenas-Cabrera C 

PROVIDER: S-EPMC8844731 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature