SYNGAP-1 developmental and epileptic encephalopathy: Utility of corpus callosotomy and neuromodulation.

Introduction: Variants in SYNGAP1 cause a rare childhood-onset developmental and epileptic encephalopathy (DEE). Limited reports describe palliative surgical procedures such as corpus callosotomy (CC) and vagus nerve stimulation (VNS) in SYNGAP1-related DEE.

Methods: A retrospective chart review of de-identified medical records from the SynGAP Research Fund Citizen Health Database (Citizen) who underwent CC and/or VNS was conducted.

Mortality in Tuberous sclerosis Complex: Current understandings.

Background: Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder caused by pathogenic loss of function variants in the tumour suppressor genes TSC1 and TSC2. The resultant hamartomas confer significant medical risks by disruption of local tissues. Risk of mortality in TSC is known to be elevated, but only recently have multiple studies assessed specific causes of mortality in TSC.

Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery.

Brain tumours are a rare cause of infantile epileptic spasm syndrome (IESS). Epilepsy surgery may be utilized in refractory IESS due to tumours, although reports are limited. We report an illustrative case of IESS which resolved after tumour resection and performed a literature review of all reported cases of brain tumours causing IESS with hypsarrhythmia.

EEG response to high dose nocturnal diazepam in children with developmental/epileptic encephalopathy with spike-and-wave activation in sleep (DEE/EE-SWAS).

Objective: To assess the response to high-dose daily nocturnal diazepam (HDD) in children with developmental and or epileptic encephalopathy with spike-wave activation in sleep (DEE/EE-SWAS) METHODS: A prospective cohort of patients (4-12 years), newly diagnosed with DEE/EE-SWAS and initiated on the first course of HDD therapy, was followed for one year. Sleep EEG scores (SES) pre and post-HDD were evaluated every three months for 12 months to monitor treatment response. Spike-wave index (SWI) was calculated using the percentage of 1-second bins containing at least one spike.

-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.

Background And Objectives: Pathogenic variants in the gene cause self-limited infantile epilepsy (SeLIE). Recently, atypical epilepsy phenotypes have been described. We explore the phenotypic spectrum of -related epilepsy through international collaboration.

Cannabinoid Use in Pediatric Epilepsy.

Cannabidiol has shown promising effects on reducing seizure frequency in children and adults with selected epilepsy syndromes. In this narrative brief review, we provide an update on the use of cannabidiol in pediatric epilepsy including the indications for its use, clinical efficacy, adverse effects, requirements for monitoring and regulations.

Circumstances surrounding sudden unexpected death in epilepsy in children: A national case series.

Objective: This study was undertaken to understand the circumstances surrounding pediatric sudden unexpected death in epilepsy (SUDEP) and identify clinical factors that may be associated with SUDEP in childhood.

Methods: A retrospective case series was conducted. Pediatric SUDEP cases were collected across Canada from the Ontario Forensic Pathology Service, Canadian Pediatric Surveillance Program, and Canadian Pediatric Epilepsy Network.

Novel epilepsy phenotype associated with a pathogenic GABRG2 variant.

None.

Biallelic SCN1A variants with divergent epilepsy phenotypes.

Purpose: Pathogenic SCN1A variants most commonly cause autosomal dominant Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+). However, rare homozygous SCN1A variants have also been reported. We report two new cases of homozygous SCN1A variants associated with divergent epilepsy phenotypes.

Low-density scalp electrical source imaging of the ictal onset zone network using source coherence maps.

Introduction: This study investigated low-density scalp electrical source imaging of the ictal onset zone and interictal spike ripple high-frequency oscillation networks using source coherence maps in the pediatric epilepsy surgical workup. Intracranial monitoring, the gold standard for determining epileptogenic zones, has limited spatial sampling. Source coherence analysis presents a promising new non-invasive technique.

Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy.

Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID). In older children, a less understood phenomenon known as sudden unexplained death in childhood (SUDC) has garnered attention.

Corpus callosotomy for refractory epileptic spasms: Systematic review and meta-analysis.

Objective: We systematically reviewed the existing literature on the efficacy of corpus callosotomy (CC) in children and adults with refractory epileptic spasms (ES) and analyzed clinical determinants of seizure outcomes.

Methods: The Preferred Report Items for Systematic Reviews and Meta-Analysis Guidelines (PRISMA) were followed. We systematically searched MEDLINE, EMBASE and Cochrane databases up to December 2023 for original research articles on using CC to treat refractory ES.

Critical care EEG monitoring in children with abusive head trauma: A retrospective study of seizure burden and predictors of neurological outcomes.

Objectives: Abusive Head Trauma (AHT) remains an important cause of acute seizures, morbidity, and mortality in children. We aimed to assess the clinical and electrographic seizure burden in children with AHT and to explore predictors of morbidity and mortality.

Methods: We conducted a retrospective chart review of all children admitted with AHT who underwent continuous electroencephalographic monitoring (cEEG) between January 1st, 2015, and April 15th, 2021.

Mean global field power is reduced in infantile epileptic spasms syndrome after response to vigabatrin.

Purpose: Infantile epileptic spasms syndrome (IESS) is associated with abnormal neuronal networks during a critical period of synaptogenesis and brain plasticity. Hypsarrhythmia is a visual EEG biomarker used to diagnose IESS, assess response to treatment, and monitor relapse. Computational EEG biomarkers hold promise in providing unbiased, reliable, and objective criteria for clinical management.

Complex Febrile Seizures: Usual and the Unusual.

Febrile seizures account for 2 to 14% of all childhood seizures, and one-third of febrile seizures are complex febrile seizures. Despite this, there is a lack of clinical equipoise in the diagnosis and management of complex febrile seizures and this results in significant practice variability amongst physicians. Although febrile seizures are generally noted to be benign phenomenon, complex febrile seizures carry the risk of subsequent epilepsy.

Genetic Testing in Pediatric Epilepsy: Tools, Tips, and Navigating the Traps.

With the advent of high-throughput sequencing and computational methods, genetic testing has become an integral part of contemporary clinical practice, particularly in epilepsy. The toolbox for genetic testing has evolved from conventional chromosomal microarray and epilepsy gene panels to state-of-the-art sequencing techniques in the modern genomic era. Beyond its potential for therapeutic benefits through precision medicine, optimizing the choice of antiseizure medications, or exploring nonpharmacological therapeutic modalities, genetic testing carries substantial diagnostic, prognostic, and personal implications.

Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Introduction: Sudden Unexpected Death in Epilepsy (SUDEP) is the leading epilepsy-related cause of death, affecting approximately 1 per 1,000 individuals with epilepsy per year. Genetic variants that affect autonomic function, such as genes associated with cardiac arrhythmias, may predispose people with epilepsy to greater risk of both sudden cardiac death and SUDEP. Advances in next generation sequencing allow for the exploration of gene variants as potential biomarkers.

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively described as mTORopathies. Tuberous sclerosis complex (TSC) serves as the prototypical mTORopathy.

CNKSR2-Related Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Report of Two Additional Cases and Review of the Literature.

CNKSR2 variants have been associated with X linked intellectual disability and epilepsy including developmental and epileptic encephalopathy with spike wave activation in sleep (D/EE SWAS) in males. We aimed to describe a sibling pair with a novel pathogenic variant in CNKSR2 with D/EE SWAS and review published cases of D/EE SWAS. A retrospective chart review and a comprehensive review of the literature were conducted.

Ketogenic Diet: Parental Experiences and Expectations.

Background: The ketogenic diet may be difficult for some patients and their families to implement and can impact physical, emotional, and social well-being.

Methods: Through principles of fundamental qualitative description, we completed an exploratory study on parents' experiences and expectations on the use and efficacy of the ketogenic diet for children with medically refractory epilepsy.

Results: Seventeen parents (10 mothers and 7 fathers) of 12 children with epilepsy participated.