Ganna Balagura

TL;DR: Recent major extensions of the Human Phenotype Ontology for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas are presented and new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease are presented.

TL;DR: The International League Against Epilepsy (ILAE) COVID-19 and Telemedicine Task Forces examined, through surveys to people with epilepsy (PWE), caregivers, and health care professionals, how the pandemic has affected the well-being, care, and services for PWE as discussed by the authors.

TL;DR: A recent large randomized controlled trial has shown that CBD is effective in the treatment of DS; preliminary data from the placebo-controlled trial on fenfluramine are also promising and further studies are definitely required to evaluate the role of verapamil and modulators of serotonin signaling in DS.

TL;DR: The mechanism of action, pharmacokinetics, drug–drug interactions, and safety/tolerability profiles of the main AEDs currently used in children and adolescents are reviewed, paying particular regard to issues of relevance when treating this patient population.

TL;DR: Fenfluramine is proving to be a promising antiepileptic drug with very favorable pharmacokinetics and with a good overall safety profile when used at a lower dosage, despite its previously link to major cardiac adverse events that prompted its withdrawal from the market in 1997.