Suspected pathophysiologic mechanism:
SLC7A3, also known as the cationic amino acid transporter 3 (CAT-3), is predominantly expressed in the brain and plays a key role in transporting arginine within neurons. Mutations or dysfunction in SLC7A3 can disrupt the NMDA receptor and mTOR signaling pathways, both of which are essential for neuronal development, synaptic plasticity, and the regulation of epilepsy.
Diagnostic testing:
SLC7A3is included in most gene panels regarding epilepsy and/or developmental delay.
Molecular characteristics
At present, there are no established genotype-phenotype correlations. On a molecular level, pathogenic SLC7A3variants may lead to moderate or severe loss of CAT-3 function, either by impairing its trafficking to the plasma membrane or by affecting the protein’s stability.
SLC7A3