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.

Epilepsy in KBG Syndrome: Report of Additional Cases.

Background: KBG syndrome is a genetic disorder characterized by short stature, dysmorphic features, macrodontia, cognitive impairment, and limb anomalies. Epilepsy is an important comorbidity associated with KBG syndrome, although the entire phenotypic spectrum may not be fully appreciated.

Methods: We identified five new patients with KBG syndrome-related epilepsy and compared their phenotype to previously reported cases in the literature.

Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.

Background: Our study goal was to characterize the relative frequencies of molecular and phenotypic traits of tuberous sclerosis complex (TSC) in a Canadian adult population. Previous studies have sought to identify TSC-related genotypic and phenotypic trends in pediatric cohorts, but little is known about clinical manifestations and severity when it presents in adults.

Methods: We conducted a retrospective chart review of adult patients seen at the TSC clinic at the University Health Network genetics clinics (Toronto, Ontario) to compare trends in the relative frequency of TSC manifestations with genotype.

Significant vomiting and weight loss in a pediatric epilepsy patient secondary to vagus nerve stimulation: A case report and review of the literature.

Vagus nerve stimulation is a neuromodulatory treatment option for individuals with drug resistant epilepsy who are not resective surgical candidates. As the vagus nerve has widespread neural connections, stimulation can lead to an array of adverse effects. While vomiting and weight loss are known side effects of vagus nerve stimulation, these are typically transient, mild, and do not limit the ability to continue treatment.

Agreement in reporting restrictions in life between children with epilepsy and their parents.

Background: This study aimed to determine the parent-child agreement of the Hague Restrictions in Childhood Epilepsy Scale (HARCES) and identify the clinical factors associated with parent-child disagreement and the restrictions.

Methods: Data come from a clinical sample of 90 children ages 9-17 (mean age = 12.9, SD = 6.

Drug-resistant focal epilepsy in a girl with SETD5-related intellectual disability.

None.

Genetics and SUDEP: Challenges and Future Directions.

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related deaths in children and adults with epilepsy. The incidence of SUDEP in children and adults is equal, approximately 1.2 per 1000-person years.

The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Objective: Epileptic Encephalopathy / Developmental Epileptic Encephalopathy with spike-and-wave activation in sleep (EE/DEE-SWAS) is defined as an epilepsy syndrome characterized by neurodevelopmental regression temporally related to the emergence of significant activation of spike-wave discharges in EEG during sleep. The availability of genetic testing has made it evident that monogenic and chromosomal abnormalities play an aetiological role in the development of EE/DEE-SWAS. We sought to review the literature to better understand the genetic landscape of EE/DEE-SWAS.

SUDEP: Living with the knowledge.

Objective: To understand how knowledge of sudden unexpected death in epilepsy (SUDEP) impacted the lives of adult persons with epilepsy (PWE) and primary caregivers of both adults and children with epilepsy.

Methods: The principles of fundamental qualitative description guided this descriptive and exploratory qualitative study to document patients' and caregivers' perceptions and experiences. A purposeful sample of individuals (18 years or older) diagnosed with epilepsy or primary caregivers of PWE completed a single in-depth, semi-structured, one-to-one telephone interview.

The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.

Objective: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype is not fully elucidated.

Methods: A retrospective chart review of two siblings with ST3GAL3-related DEE was completed.

SUDEP counseling: Where do we stand?

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death in children and adults living with epilepsy. Several recent clinical practice guidelines have recommended that all individuals living with epilepsy and their caregivers be informed about SUDEP as a part of routine epilepsy counseling. Furthermore, several studies over the last two decades have explored the state of SUDEP counseling.