Jack M. Parent

A CK2α-G3BP1 signaling axis regulates local translation in developing neurons and is disrupted in OCNDS

This study identifies a CK2α-G3BP1 signaling axis critical for neuronal translation and development, showing its disruption causes OCNDS pathology.

Progenitor Diversity and Architecture of the Human Ganglionic Eminences Shaping the Basal Ganglia

The paper identifies distinct progenitor populations in human ganglionic eminences, their gene regulatory networks, and lineage trajectories using single-nucleus transcriptomics and spatial transcriptomics.

Hyperthermic Seizure Susceptibility and Focal Decreases in Parvalbumin-Expressing Cortical Interneurons in a Mouse Model of PCDH19-Clustering Epilepsy

This study investigates a mouse model of PCDH19-clustering epilepsy, finding hyperthermia-induced seizures and reduced parvalbumin-expressing interneurons in specific brain regions.

Modeling Cortical Versus Hippocampal Network Dysfunction in a Human Brain Assembloid Model of Epilepsy and Intellectual Disability

This study uses human brain assembloids to model how a genetic epilepsy syndrome affects cortical and hippocampal networks differently, revealing distinct dysfunction patterns.

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.

Genome-wide CRISPRi Screen in Human iNeurons to Identify Novel Focal Cortical Dysplasia Genes

The paper uses a CRISPRi screen in human iNeurons to identify novel FCD genes that increase mTOR signaling, finding two genes mutated in FCD patient tissue.

A shared pathogenic mechanism for valproic acid and SHROOM3 knockout in a brain organoid model of neural tube defects

This study identifies a shared mechanism of increased lumen size due to reduced apical constriction in brain organoids caused by valproic acid and SHROOM3 knockout.

Self-organizing Single-Rosette Brain Organoids from Human Pluripotent Stem Cells

The paper describes a method to generate reproducible single-rosette brain organoids from human pluripotent stem cells and uses them to study structural phenotypes in neurodevelopmental disorders.

Identification of neural oscillations and epileptiform changes in human brain organoids

This study identifies neural oscillations and epileptiform changes in human brain organoids derived from MECP2 mutant patients using calcium imaging and extracellular recordings.

Microglia Stimulate Zebrafish Brain Repair Via a Specific Inflammatory Cascade

This study shows that microglia promote zebrafish brain repair through specific inflammatory signaling pathways, highlighting their role in neurogenesis and inflammation resolution.

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.

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells

This study reactivates FMR1 transcription in FXS patient cells using CRISPR/dCAS9 and VP192, increasing FMRP levels and demonstrating a potential therapeutic approach for Fragile X Syndrome.