Position-dependent effects of SCN2A premature stop codons on neuronal excitability and behavior
Ahmad Al Saneh, Maria Fernanda Hermosillo Arrieta, Lionel Gissot, Madison O’Bryan, Rui Li, Gordon F. Buchanan, Christopher A. Ahern, Aislinn Joanmarie Williams
This study shows that different SCN2A premature stop codons have distinct effects on neuronal function and behavior in mice, challenging the assumption of uniform haploinsufficiency.
bioRxiv · Oct 30, 2025 · PreprintNeuroscience