SCN2A: Molecular Mechanisms, NaV1.2 Function, and Precision Therapeutic Strategies for Early-Onset Epilepsy
In April 2025, a clinical case report in Nature Medicine offered groundbreaking evidence for precision therapeutics targeting SCN2A. The study described a neonate with early-onset, drug-resistant epilepsy caused by a gain-of-function (GoF) SCN2A mutation—encoding the α-subunit of the voltage-gated sodium channel NaV1.2. Following intrathecal administration of elsunersen, an SCN2A-targeting antisense oligonucleotide (ASO), the patient experienced a marked reduction in seizure frequency and showed early neurological improvement.



