Wayne N. Frankel

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

This study examines how a KCNT1 gain-of-function variant affects SST and PV GABAergic neurons, revealing differential functional outcomes and potential pathogenic mechanisms in DEEs.

This study shows that sensory input regulates absence seizures in Gnb1 mutant mice by modulating thalamocortical pathway activity.

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 shows that Arfgef1 haploinsufficiency in mice reduces dendritic surface GABAAR and alters endosome composition, leading to increased seizure susceptibility.

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.