Responsive Neurostimulation in Pediatric and Young Adult Patients With Drug-Resistant Focal, Multifocal, and Generalized Epilepsy: A Single-Center Experience.

Background: Responsive neurostimulation (RNS) is used off-label in pediatric patients with drug-resistant epilepsy (DRE). Our study aims to assess the safety and efficacy of RNS in pediatric and young adult patients with focal, multifocal, and generalized DRE.

Methods: All patients who underwent RNS implantation at Primary Children's Hospital in Salt Lake City, UT, between December 2017 and 2022.

Research conference summary from the 2014 International Task Force on -Related Disorders.

Objective: -related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism.

Methods: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with -related disorders.

Results: Workshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts.

Recent developments in the surgical management of paediatric epilepsy.

Among the 1% of children affected by epilepsy, failure of pharmacological therapy and early age of seizure onset can lead to worse long-term cognitive outcomes, mental health disorders and impaired functional status. Surgical management often improves functional and cognitive outcomes in children with medically refractory epilepsy, especially when seizure remission is achieved. However, surgery remains underused in children with drug-resistant epilepsy, creating a large treatment gap.

Rasmussen encephalitis with dual pathology in a patient without seizures: case report and literature review.

Purpose: Rasmussen encephalitis without seizures is rare. We report a case of Rasmussen encephalitis and cortical dysplasia without epilepsy as well as describe the imaging, pathology, and clinical course and review the literature to investigate whether this may represent a rare subset of Rasmussen encephalitis.

Case Report: We report the case of a 12-year-old girl with a history of cognitive decline and right arm weakness.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Background: ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome.

Methods: Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes.

Results: While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals.

Induction of mild hypothermia by noninvasive body cooling in healthy, unanesthetized subjects.

The induction of mild hypothermia has been considered as an important means to provide protection against cerebral ischemia. Yet, to date, the relative clinical efficacies of different noninvasive methods for reducing core body temperature have not been thoroughly studied. The aim of the current investigation was to compare the relative effectiveness of several noninvasive cooling techniques for reducing core temperatures in healthy volunteers.

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome.

Objectives: Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In more than 3 decades since its description, little progress has been made in understanding its etiology or in identifying effective treatments. In 1998, in collaboration with the Alternating Hemiplegia of Childhood Foundation, an international registry was established to help document clinical outcomes and promote research efforts.