A De Novo, Intragenic Modifier in Cis Rescues Scn8a-N1768D Epilepsy and Defines a Therapeutic Window Bounded by Gain- and Loss-of-Function
Erfan Bahramnejad, Victor J. Hiller, Michael F. Hammer
The paper identifies a de novo frameshift variant that rescues a Gain-of-function SCN8A epilepsy phenotype by reducing NaV1.6 expression within a therapeutic window.
bioRxiv · Sep 13, 2026 · PreprintGenetics