Abstracts

Rationale: Sleep-related hypermotor epilepsy is a focal epilepsy characterized by hypermotoric seizures of nocturnal predominance during No-REM phase of sleep, with brief duration of seizures and stereotyped movements. We present five cases of SHE with confirmed genetic diagnostic in our center. Methods: 1) Patients with follow-up in epilepsy ward in our center 2) Complete study with 3-Tesla Magnetic Resonance (MRI), video-EEG and confirmed genetic diagnostic. Results: We included five patients with ages between 22 and 59 years. Three patients (60%) were women and two patients (40%) were men. Median onset age was 5.8 years. In all the cases there was a previous familiar history of seizure during sleep. None of the patients presented cognitive impairment, but in three (50%) psychiatric comorbidity was associated. In all patients neuroimaging with 3-Tesla MRI was performed, and in only one a left frontal cortical dysplasia was found. In all cases video-EEG registry showed epileptiform abnormalities, with frontal predominance and ocasional generalization. In two patients (40%) a mutation in DEPC5 gene was found, in one (20%) a mutation in CHRNA4, in one patient (20%) a mutation in CHRNA2 and in one patient (20%) in KCNT1. In only two patients good seizure control was reached using just one or two drug, while three of the patients presented a drug resistant epilepsy requiring more than two drugs. Conclusions: SHE is a rare but well-characterized epileptiform disorder, and based on clinical suspicion, a complete study with neuroimaging, video-EEG and the recently available diagnostic testing should be carried out. Funding: None