Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties
Lanie N. Liebovitz, Christopher H. Thompson, Linda Laux, Alfred L. George
The paper investigates four SCN1A variants affecting the same codon, finding mixed and complete loss-of-function effects, suggesting functional diversity beyond codon position.
Annals of Clinical and Translational Neurology · Feb 20, 2026Peer-reviewedNeuroscience