Ethan M. Goldberg

Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of SCN1A gain-of-function neurodevelopmental disorder

This study develops a mouse model of SCN1A gain-of-function epilepsy and shows that inhibitory neuron dysfunction drives seizures and premature mortality.

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years

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

Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy

This study creates a mouse model with the KCNC1-A421V variant to investigate its effects on neuronal excitability and epilepsy, finding impaired function in fast-spiking interneurons and network dysfunction.

Use-dependent regulation of the axonal action potential in parvalbumin-expressing interneurons

The paper investigates axonal action potential propagation in parvalbumin-expressing interneurons during high-frequency activity, finding use-dependent changes in axonal AP waveform and synaptic transmission.

Developmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome

This study examines chandelier cell excitability in Dravet Syndrome mice, finding impaired excitability in juvenile and adult stages, distinct from basket cells.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.

Electroconvulsive therapy generates a postictal wave of spreading depolarization in mice and humans

This study shows that electroconvulsive therapy (ECT) induces a postictal wave of spreading depolarization in both mice and humans, suggesting a new mechanism for its therapeutic effects.

An enhancer-AAV toolbox to target and manipulate distinct interneuron subtypes

The paper identifies enhancer-AAV tools for specific neuronal subtypes and validates them across species.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

Attenuated ectopic action potential firing in parvalbumin expressing interneurons in a mouse model of Dravet Syndrome

The paper investigates EAP firing in PVINs from Dravet syndrome mice and finds reduced EAP frequency compared to wildtype controls.

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

The SCN1A Philadelphia variant - a gain-of-function mutation causing an early-onset epileptic encephalopathy

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.

Exogenous Nav1.1 activity in excitatory and inhibitory neurons reverts Dravet syndrome comorbidities when delivered post-symptom onset in mice with Dravet

This study shows that delivering a modified SCN1A gene via viral vectors to DS mice improves survival, reduces seizures, and corrects brain activity after symptom onset.

Developmentally-regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome

This study shows that impaired spike generation and synaptic transmission in parvalbumin interneurons contribute to Dravet syndrome severity and chronic pathology in an experimental model.

Corticohippocampal circuit dysfunction in a mouse model of Dravet syndrome

This study identifies circuit dysfunction in the hippocampus of a Dravet syndrome mouse model and shows that restoring parvalbumin interneuron function can rescue circuit impairments.

Enhanced maturation of human stem cell derived cortical interneurons by mTOR activation

This study accelerates the maturation of human stem cell-derived cortical interneurons by activating mTOR signaling through PTEN deletion or AKT activation, enhancing synaptogenesis and dendritogenesis.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.