Jillian L. McKee

The paper develops humanized mouse models for SYNGAP1 and STXBP1 disorders, showing similar electrophysiological and behavioral abnormalities in mice and patients, and demonstrates the efficacy of antisense oligonucleotides in modulating SYNGAP1 expression.

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

This study characterizes SCN1A-related disorders using real-world data from 100 individuals over 681 patient-years, detailing seizure patterns, comorbidities, and treatment changes.

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

This study identifies clinical features preceding genetic epilepsy diagnosis in EMR data from 32,000 individuals, showing early signs can inform earlier treatment.

This study analyzes 52,143 individuals to characterize paediatric speech and language disorders, identifying genetic associations and clinical patterns.

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

This paper identifies and characterizes the SCN1A p.R1636Q gain-of-function variant, showing it causes early-onset epileptic encephalopathy with distinct clinical and electrophysiological features.