Lori L. Isom

The impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome

This study shows seizures impair REM sleep by disrupting cholinergic neurons in the pedunculopontine nucleus in a mouse model of Dravet Syndrome.

EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene STXBP1

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

Human Medial Ganglionic Eminence Organoids Robustly Generate Parvalbumin Interneurons and Fast-Spiking Neurons and Reveal Migratory Deficits in SLC6A1 Deficient Interneurons

This paper develops a method to generate MGE organoids from hPSCs that robustly produce PV-expressing interneurons and reveals migration deficits in SLC6A1-deficient interneurons.

Cryopreservation of Human Cortical Organoids Using Vitrification.

This paper demonstrates that vitrification can effectively cryopreserve human cortical organoids, maintaining their structure, cell type composition, and function.

Dscam gene triplication causes neocortical overinhibition in Down syndrome

This study shows that Dscam overexpression in Down syndrome mouse models causes excessive GABAergic inhibition of neocortical pyramidal neurons.

Variant-specific changes in persistent or resurgent Na+ current in SCN8A-EIEE13 iPSC-derived neurons

This study uses patient-derived iPSC neurons to show variant-specific changes in sodium currents in SCN8A-EIEE13, identifying altered persistent and resurgent INa and potential therapeutic responses.

Ankyrin-G Regulates Forebrain Connectivity and Network Synchronization via Interaction with GABARAP

This study shows that ankyrin-G regulates forebrain connectivity and network synchronization through its interaction with GABARAP, and identifies a variant linked to bipolar disorder.