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Elizabeth Berry-Kravis

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Open access Jul 2026

Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy

In two patients with SCN2A epileptic encephalopathy, treatment with personalized allele-selective antisense oligonucleotides led to a decrease in seizure frequency with a positive safety profile, and a pathway from n = 1 to n of more patients with SCN2A-RD and other monogenic disorders is provided.

Olivia Kim-Mcmanus, L. Mignon, J. Douville et al. · 2 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. · 0 citations