Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of two members (KCNB1 and KCNB2) encoded by KCNB1 and KCNB2, respectively. These channels are major contributors to delayed rectifier potassium currents arising from the neuronal soma which modulate overall excitability of neurons.

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.

We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data.

Awake Craniotomy Language Mapping in Children With Drug-Resistant Epilepsy due to Focal Cortical Dysplasia.

Background: Language mapping during awake craniotomy can allow for precise resection of epileptogenic lesions, while reducing the risk of damage to eloquent cortex. There are few reports in the literature of language mapping during awake craniotomy in children with epilepsy. Some centers may avoid awake craniotomy in the pediatric age group due to concerns that children are unable to cooperate with such procedures.

Randomized placebo-controlled crossover trial of memantine in children with epileptic encephalopathy.

Memantine is an N-methyl-D-aspartate receptor antagonist, approved for dementia treatment. There is limited evidence of memantine showing benefit for paediatric neurodevelopmental phenotypes, but no randomized placebo-controlled trials in children with developmental and epileptic encephalopathy. In this randomized double-blind placebo-controlled crossover trial (Trial registration: https://clinicaltrials.

"Generalized-to-focal" epilepsy: stereotactic EEG and high-frequency oscillation patterns.

Objective: We aimed to clarify the pathophysiology of epilepsy involving seizures with apparently generalized onset, progressing to focal ictal rhythm through stereotactic EEG (SEEG) implantation, recording, stimulation and high-frequency oscillation (HFO) analysis.

Methods: We identified two patients with seizures with bilateral electrographic onset evolving to focal ictal rhythm, who underwent SEEG implantation. Patients had pre-surgical epilepsy work-up, including prolonged video scalp EEG, brain MRI, PET, ictal/interictal SPECT, MEG, and EEG-fMRI prior to SEEG implantation.

Prosopagnosia seizure semiology in a 10-year-old boy: a functional neuroimaging study.

We illustrate a case of post-traumatic recurrent transient prosopagnosia in a paediatric patient with a right posterior inferior temporal gyrus haemorrhage seen on imaging and interictal electroencephalogram abnormalities in the right posterior quadrant. Face recognition area mapping with magnetoencephalography (MEG) and functional MRI (fMRI) was performed to clarify the relationship between the lesion and his prosopagnosia, which showed activation of the right fusiform gyrus that colocalised with the lesion. Lesions adjacent to the right fusiform gyrus can result in seizures presenting as transient prosopagnosia.

Copy number variation in genetic epilepsy with febrile seizures plus.

Aim: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals may have a variety of epilepsy phenotypes, the most common being febrile seizures (FS) and febrile seizures plus (FS+). We investigated the possible contribution of copy number variation to GEFS+.

Method: We searched our epilepsy research database for patients in GEFS + families who underwent chromosomal microarray analysis.

X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.

Background: The genetic basis for familial focal epilepsy is poorly understood, with most of the known genetic causes occurring via autosomal dominant inheritance. X-linked familial focal epilepsy has not been previously reported.

Methods: We reviewed our research database for cases of X-linked focal epilepsy.

KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.

Objective: Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1-related epilepsy and explored genotype-phenotype correlations associated with frequently encountered variants.

Methods: A cross-sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics.

Fragile Females: Case Series of Epilepsy in Girls With Disruption.

Girls with pathogenic variants in , the gene responsible for Fragile X syndrome, have received relatively little attention in the literature. The reports of girls with trinucleotide expansions or deletions affecting describe variable phenotypes; having normal intelligence and no severe neurologic sequelae is not uncommon. We reviewed epilepsy genetics research databases for girls with pathogenic variants and seizures to characterize the spectrum of epilepsy phenotypes.

The Diagnostic Accuracy of Prolonged Ambulatory Versus Routine EEG.

Prolonged ambulatory electroencephalography (paEEG) is increasingly used in clinical practice but its diagnostic accuracy relative to that of routine EEG (rEEG) remains uncertain. We examined a consecutive sample of 72 individuals who had undergone 32-channel paEEG immediately after an rEEG, creating perfectly matched EEG samples. Each recording was prospectively assessed for epileptiform discharges (ED) and nonepileptiform abnormalities.

High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience.

Purpose: To determine the efficacy of the Modified Atkins Diet (MAD) and Ketogenic Diet (KD) in seizure control within a population of myoclonic-astatic epilepsy (MAE) patients.

Methods: This was a retrospective, single center study evaluating the seizure control by high fat diets. Seizure diaries kept by the parents performed seizure counts.

Sleep in children with cerebral palsy: a review.

Children with neurodevelopmental disabilities, such as cerebral palsy, are considered to be a population at risk for the occurrence of sleep problems. Moreover, recent studies on children with cerebral palsy seem to indicate that this population is at higher risk for sleep disorders. The importance of the recognition and treatment of sleep problems in children with cerebral palsy cannot be overemphasized.

Determinants of ambulation in children with spastic quadriplegic cerebral palsy: a population-based study.

The objective of this study was to identify factors that predict ambulation in spastic quadriplegic cerebral palsy. A 4-year registry-based birth cohort was searched for patients with a diagnosis of spastic quadriplegic cerebral palsy. All patients were then divided in 2 groups: (a) Gross Motor Function Classification System level < or = III (ambulant group) and (b) Gross Motor Function Classification System level > or = IV (nonambulant group).

A profile of adolescent-onset epilepsy.

To describe the profile of children with adolescent-onset epilepsy and to determine factors predictive of outcome. A database was searched for all patients with a first seizure between the age of 12 and 16 years. Sixty-five adolescents met inclusion criteria.

Features of a subset of children with complex partial epilepsy requiring combination therapy for effective seizure control.

To identify children with complex partial seizures with increased risk for suboptimal seizure control with 1 medication, a computerized database containing all patients seen in the context of a single pediatric neurology practice was reviewed for patients with complex partial seizures. Participants included in analysis were then divided into groups; a group in whom seizure control was attained with a single medication (group 1) and a group for whom 2 or more medications were required for seizure control (group 2). Status epilepticus, developmental disabilities, and the presence of coexisting other seizures/types were also significantly different, with a higher predominance in group 2 children.

Compliance with fluoride supplements provided by a dental hygienist in homes of low-income parents of preschool children in Quebec.

Objective: This study aimed to assess the compliance with fluoride supplements provided at home by a dental hygienist to mothers of at-risk preschool children.

Methods: Participants were recruited during pregnancy of low-income women. On the first visit, the mothers of 60 infants aged 6 to 9 months were handed free fluoride supplements.