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Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of <i>SCN1A</i> gain-of-function neurodevelopmental disorder
VIP (Vasoactive Intestinal Polypeptide) · biorxiv-preprint · 2026 · Animal study · Preclinical
This study demonstrates that SCN1A gain-of-function mutations can lead to severe epilepsy and premature mortality in mice, with potential lifespan extension observed following treatment with GS967.
100% premature mortality in 64/64 mutant mice between postnatal day 12-18.