Author

Zaiyang Zhang

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Open access Sep 2026

Gene therapy with doxycycline-controlled expression of human Kv1.1 reduces neuronal excitability and increases sociability of Scn2a -deficient mice

Genetic loss-of-function (LoF) variants in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been identified as one of the foremost monogenic causes of autism spectrum disorder (ASD). ASD encompasses a broad spectrum of behavioral phenotypes, with impaired sociability as a core characteristic. We hav...

Brody A. Deming, Jing-Liang Zhang, Iuliia Vitko et al. · bioRxiv · 0 citations

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