Michael J. Boland

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.

This study investigates the functional impact of SLC35A2 loss of function variants on glycomic signatures, neuronal fate, and network dynamics using human induced pluripotent stem cell-derived neurons.

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.

The paper develops topological synchrony measures to identify disease-relevant phenotypes in mouse models of epileptic encephalopathies using MEAs.

The paper uses single-cell transcriptomics to analyze ex vivo models of cortical and hippocampal development, identifying region-specific transcriptomic changes and disease-associated gene expression differences.

The paper identifies compounds that correct aberrant molecular phenotypes in cellular models of glycosylation defects using a phenotypic screening approach.

This study examines HNRNPU haploinsufficiency in mice, identifying neuroanatomical and transcriptomic changes, and highlights cell-type-specific gene expression dysregulation in excitatory neurons.

The paper investigates how a gain-of-function K+ channel variant causes seizures by reducing inhibitory neuron excitability and increasing network hyperconnectivity.

This study models GRIN2A-related DEE in mice, identifies seizure and behavioral abnormalities, and evaluates treatment strategies.

This study identifies GNB1 mutations causing neurodevelopmental disorder and shows ethosuximide effectively treats symptoms in mouse and cellular models.

The paper introduces meaRtools, an R package for analyzing neuronal network data from microelectrode arrays, demonstrating its ability to identify epilepsy-like phenotypes in Celf4 knockout mice.