Author

Alfred L. George

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Open access Sep 2026

Elevated neuronal excitability and seizure susceptibility in a mouse model of SCN2A-related developmental and epileptic encephalopathy

Pathogenic variants in SCN2A cause a spectrum of neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEE). The patient-associated SCN2A-p.E430A variant selectively shifts voltage-dependence of activation, a mechanism predicted to enhance neuronal excitability. To investigate the functi...

N. Hawkins, Dennis M. Echevarria-Cooper, Erin E. Corbett et al. · bioRxiv · 0 citations

#gene editing Open access Aug 2026

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.

A single uORF in KCNQ2 is identified that is highly repressive of protein translation and it is demonstrated that mutations disabling the uORF start codon enhance synthesis of encoded potassium channels and weaken ribosome engagement at the uORF.

D. Huey, Eduardo Guadarrama, J. DeKeyser et al. · Proceedings of the National... · 0 citations