Phenotypes and Genotypes in Patients with -Related Developmental and Epileptic Encephalopathy.

The X-linked gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features; however, rare variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS. Unlike the male-to-female ratio of 1:2 in those with CdLS associated with dominant-negative variants, -DEE loss-of-function (LOF) variants are found exclusively in females due to presumed lethality in males.

Retrospective Evaluation of First-line Levetiracetam use for Neonatal Seizures after Congenital Heart Defect repair with or without Extracorporeal Membrane Oxygenation.

Objective: Levetiracetam (LEV) efficacy for neonatal seizures is debated. We evaluated LEV as a first line anti-seizure medicine (ASM) in neonates following neonatal congenital heart defect (CHD) repair who did not require extracorporeal membrane oxygenation (ECMO) vs neonates who required ECMO.

Methods: A single center retrospective review of neonates with CHD from 2015 to 2020 was conducted.

Structural MRI and tract-based spatial statistical analysis of diffusion tensor imaging in children with hemimegalencephaly.

Purpose: To investigate the gross white matter abnormalities in the structural brain MR imaging as well as white matter microstructural alterations using tract-based spatial statistics (TBSS) analysis of diffusion tensor imaging (DTI) in both affected and contralateral cerebral hemispheres of children with hemimegalencephaly (HMEG).

Methods: From 2003 to 2019, we retrospectively reviewed brain MR images in 20 children (11 boys, 2 days-16.5 years) with HMEG, focusing on gross white matter abnormalities.

Forehead location and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber syndrome.

Background: Children with forehead port-wine stains (PWSs) are at risk of Sturge-Weber syndrome (SWS). However, most will not develop neurologic manifestations.

Objective: To identify children at greatest risk of SWS.

Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study.

Objective: To assess long-term efficacy and tolerability of rufinamide in children with epilepsy and a broad spectrum of underlying epileptic etiologies.

Methods: Patients with epilepsy treated with rufinamide between 1/1/2009 and 1/1/2018 at Seattle Children's Hospital were included. Data were collected via retrospective chart review.

Current Status of Continuous Electroencephalographic Monitoring in Critically Ill Children.

The utilization of continuous electroencephalographic monitoring in critical care units has increased significantly, and several consensus statements and guidelines have been published. The use of critical care electroencephalographic monitoring has become a standard of care in many centers in the United States and other countries. The most common indication is to detect electrographic seizures and status epilepticus.