Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

About 50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as >100 bp from exon-intron junctions, contribute to disease by affecting the splicing of mRNAs in clinically relevant genes. Identifying deep intronic pathogenic variants is challenging and resource intensive, and interpretation is difficult due to limited functional annotations.

Indications and prescribing patterns of antiseizure medications in children in New Zealand.

Aim: To determine indications and prescribing patterns for antiseizure medications (ASMs) in children by age, sex, and socioeconomic status.

Method: This retrospective study searched the New Zealand database of ASM prescriptions dispensed to individuals aged 18 years or under during 2015 in three regions of New Zealand (48% paediatric population). Medical records were reviewed by a paediatric neurologist for indication.

Epidemiology of Treated Epilepsy in New Zealand Children: A Focus on Ethnicity.

Background And Objectives: To determine the period prevalence and incidence of treated epilepsy in a New Zealand pediatric cohort with a focus on ethnicity and socioeconomic status.

Methods: This was a retrospective cohort study. The New Zealand Pharmaceutical Collection database was searched for individuals ≤18 years of age dispensed an antiseizure medication (ASM) in 2015 from areas capturing 48% of the New Zealand pediatric population.

Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial.

Importance: Developmental and epileptic encephalopathies (DEEs) are the most severe group of drug-resistant epilepsies. Alternatives to oral therapies are urgently needed to reduce seizures and improve developmental outcomes and comorbidities in this medically complex population.

Objective: To assess the safety and tolerability of cannabidiol (CBD) transdermal gel in children with DEEs and to evaluate seizure frequency, sleep, and quality of life.

Palliative care in a tertiary neonatal intensive care unit: a 10-year review.

Objectives: When active treatment is no longer in the best interests of the patient, redirection of care to palliation is an important transition. We review, within a tertiary neonatal intensive care unit (NICU), the journey leading to the decision to redirect care, the means of symptom control and the provision of psychosocial supports.

Methods: A retrospective review of all 166 deaths of NICU-affiliated patients during a 10- year epoch.

Paediatric EEG provision in New Zealand: a survey of practice.

Aim: Epilepsy is a common neurological disorder in children. Electroencephalography (EEG) is integral to the diagnosis of an electroclinical epilepsy syndrome. Here we aim to describe provision of paediatric EEGs in New Zealand.

Vascular function and risk factors in children with epilepsy: associations with sodium valproate and carbamazepine.

Aim: To investigate biochemical cardiovascular risk factors and vascular endothelial function and structure in children with epilepsy on antiepileptic drugs (AEDs), particularly sodium valproate (VPA) and carbamazepine (CBZ).

Background: Individuals with epilepsy have increased risk factors for vascular disease, particularly lipid abnormalities and elevated total plasma homocyst(e)ine (tHcy). AED induced B-vitamin deficiencies have been suggested to contribute to this risk.