Patient family engagement and partnership: Pilot survey results in assessing behavior, communication, and quality of life in children with Lennox-Gastaut syndrome and other drug-resistant epilepsy.

Objectives: Lennox-Gastaut Syndrome (LGS) and other drug-resistant epilepsy (DRE) can impact behavior, communication, and quality of life (QoL). In collaboration with community engagement efforts with the Lennox-Gastaut Syndrome Foundation (LGSF), we aimed to gain an initial snapshot of patient and family perspectives and experiences with evaluation of behavior, communication, and QoL.

Methods: A cross-sectional survey was conducted to collect self-reported information from caregivers of children with LGS and other DRE regarding their perspectives and experiences with healthcare providers' evaluation of behavior, communication, and QoL.

An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

Objective: Collier/Olf/EBF (COE) transcription factors have distinct expression patterns in the developing and mature nervous system. To date, a neurological disease association has been conclusively established for only the Early B-cell Factor-3 (EBF3) COE family member through the identification of heterozygous loss-of-function variants in individuals with autism spectrum/neurodevelopmental disorders (NDD). Here, we identify a symptom severity risk association with missense variants primarily disrupting the zinc finger domain (ZNF) in EBF3-related NDD.