Author

M. Abbott

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Open access Jul 2026

Epilepsy-associated SCN2A-L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids.

These findings demonstrate that the Nav1.2-L1342P mutation drives a multifaceted disease phenotype, including network hyperexcitability and disruption of pathways related to neuronal and synaptic functions, which advances understanding of SCN2A-related developmental and epileptic encephalopathy (DEE).

M. I. Olivero-Acosta, Morgan Robinson, Zhefu Que et al. · Epilepsia · 0 citations

Open access Jul 2026

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

A feasible natural history protocol with prospective data for two complex neurodevelopmental disorders with natural histories that have previously been incompletely characterized is presented, within a regulatory framework that will support the use of these data to expedite clinical trial development.

J. McKee, S. Ruggiero, K. Cunningham et al. · Epilepsia · 0 citations