The Transmitter (Spectrum)

Portfolio of SCN2A Gene Variants, and More

A new preprint maps a broad portfolio of SCN2A gene variants onto the Nav1.2 sodium channel, revealing distinct functional impacts that correspond to neurodevelopmental outcomes. Loss‑of‑function mutations linked to non‑syndromic autism reduce channel activity, while co‑expression with wild‑type proteins produces a dominant‑negative effect. The study also charts variants associated with epilepsy, developmental encephalopathy, and schizophrenia, highlighting a spectrum of channel dysfunction. These mechanistic insights extend earlier reports on SCN2A’s role in diverse brain disorders.