Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

ABSTRACT:

Objective

SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na_V1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders. However, the mechanisms whereby variation in SCN2A leads to disease remains incompletely understood, and the full spectrum of SCN2A-related disorders may not be fully delineated.

Methods

Here, we identified seven de novo heterozygous variants in SCN2A in eight individuals with developmental and epileptic encephalopathy (DEE) accompanied by prominent malformation of cortical development (MCD). We characterized the electrophysiological properties of Na + currents in human embryonic kidney (HEK) c

SUBMITTER: Clatot J 

PROVIDER: S-EPMC11908663 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature