Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.

Background: Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes. Both seizures and movement disorders can be highly treatment-refractory.

Results: We describe a targeted ABA n-of-1 treatment trial with intrathecal MgSO, rationally designed based on the electrophysiologic properties of this gain of function mutation in the GRIN1 NMDA subunit.

Pediatric status epilepticus management by Emergency Medical Services (the pSERG cohort).

Purpose: Delayed treatment in status epilepticus (SE) is independently associated with increased treatment resistance, morbidity, and mortality. We describe the prehospital management pathway and Emergency Medical Services (EMS) timeliness in children who developed refractory convulsive status epilepticus (RCSE).

Methods: Retrospective multicenter study in the United States using prospectively collected observational data from June 2011 to March 2020.

Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.

Background And Objectives: The objective of this study was to determine patient-specific factors known proximate to the presentation to emergency care associated with the development of refractory convulsive status epilepticus (RSE) in children.

Methods: An observational case-control study was conducted comparing pediatric patients (1 month-21 years) with convulsive SE whose seizures stopped after benzodiazepine (BZD) and a single second-line antiseizure medication (ASM) (responsive established status epilepticus [rESE]) with patients requiring more than a BZD and a single second-line ASM to stop their seizures (RSE). These subpopulations were obtained from the pediatric Status Epilepticus Research Group study cohort.

Is Resting State Functional MRI Effective Connectivity in Movement Disorders Helpful? A Focused Review Across Lifespan and Disease.

In the evolving modern era of neuromodulation for movement disorders in adults and children, much progress has been made recently characterizing the human motor network (MN) with potentially important treatment implications. Herein is a focused review of relevant resting state fMRI functional and effective connectivity of the human motor network across the lifespan in health and disease. The goal is to examine how the transition from functional connectivity to dynamic effective connectivity may be especially informative of network-targeted movement disorder therapies, with hopeful implications for children.

Comparison of Surgical Outcomes in Individuals With Hypothalamic Hamartoma Alone or With Other Potentially Epileptogenic Focal Lesions.

Background: Hypothalamic hamartoma is a rare condition associated with refractory seizures. It can occur in isolation or with additional epileptogenic lesions. The aim of this study was to investigate the effects of additional potentially epileptogenic lesions on surgical outcomes in individuals with hypothalamic hamartoma.