Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations

摘要: Summary Purpose:  Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive epilepsy (PME) with severe dysfunction. We describe clinical and neurophysiologic features PME associated mutations without impairment. Methods:  Clinical investigations, including wakefulness sleep electroencephalography (EEG), polygraphic recording (with jerk-locked back-averaging analysis EEG–EMG (electromyography) relationship by coherence spectra phase calculation), multimodal evoked potentials, electromyography were performed on five Italian patients mutations. Key Findings:  The main adolescent–young adulthood onset, myoclonus, ataxia, absence cognitive deterioration and, in most cases, epilepsy. severity could vary from uncontrolled seizures status epilepticus adolescent onset to absent or adult onset. Relevant findings pronounced photosensitivity massive rhythmic myoclonic jerks at frequency 12–20 Hz, clinically resembling postural tremor. cortical origin was demonstrated mainly signals indicating significant coupling direct corticospinal transfer. Significance:  Our showed phenotype PME, which be extremely severe, extending spectrum reported typical AMRF syndrome. Patients unknown young these features, should tested for mutations, even impairment.