These studies have identified somatic PIK3CA and MAP3K3 mutations in sCCM lesions and highlight other molecular substrates in sCCM pathogenesis, such as PI3K/Akt/mTOR signaling, epilepsy-associated genes, neuroinflammation, metabolism of reactive oxygen species, remodeling of the extracellular matrix, and deterioration of cell junctions [69,70,71,72]. The gene discussed is PIK3CA; the disease is epilepsy.