Telehealth Use and Access to Neurology Outpatient Clinical Services for Children: An Observational Cohort Study.

Background: Access to neurology services is important for children's well-being. We sought to evaluate the effects of telehealth on pedi-atric neurology appointment outcomes for children.

Methods: Using electronic health record (EHR) data, information about children with pediatric neurology appointments in a tertiary care children's hospital in North Carolina was collected.

Audio or Video? Access to Pediatric Neurology Outpatient Services Varies by the Type of Telehealth, Especially for Black Children.

Background: Children of minority race/ethnicity face barriers to accessing specialty services. During the COVID pandemic, health insurance companies reimbursed telehealth services. Our objective was to evaluate the effect of audio versus video visits on children's access to outpatient neurology services, particularly for Black children.

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Objective: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.

Methods: We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were evaluated for all patients, and functional and neuropathologic studies were performed on 1 patient.

Quinidine in the treatment of KCNT1-positive epilepsies.

We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG.

Successful ECT treatment for medically refractory nonconvulsive status epilepticus in pediatric patient.

Status epilepticus is a life threatening condition with a high mortality rate in spite of aggressive treatment. There is little consensus on third and fourth line approaches in refractory cases. While electroconvulsive therapy (ECT) has been employed successfully as a treatment for refractory epilepsy and status epilepticus (SE) after exhausting conventional therapy, its use for pediatric patients is limited.