Safety & feasibility of responsive neurostimulation in children with refractory epilepsy: A single-center experience.

Objectives: Responsive neurostimulation (RNS) is a relatively recent addition to the epilepsy surgery armory, gaining FDA approval in 2013 for use in adults with intractable focal epilepsy. Data for the use of RNS system in patients less than 18 years of age is limited. We aim to determine the safety and feasibility of RNS in children with refractory epilepsy.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail.

Sleep and Epilepsy.

The relationship between sleep and epilepsy is both intimate and bidirectional. The molecular mechanisms which control circadian rhythm and the sleep/wake cycle are dysregulated in epileptogenic tissue and are themselves effected by molecular pathways for epilepsy. Sleep affects the frequency of interictal epileptiform discharges and recent research has raised new questions regarding the impact of discharges on sleep function and cognition.