Frequently identified genetic developmental and epileptic encephalopathy: A review focusing on precision medicine

In this article, we reviewed current knowledge regarding gene-specific therapies for some developmental and epileptic encephalopathy caused by genes with high diagnostic yields, and which are therefore, also more frequently encountered by physicians during treatment, including ALDH7A1, CDKL5, KCNQ2, KCNT1, SCN2A, SCN8A, STXBP1, and SYNGAP1. Among these therapies, the ones directly targeting causative mutations are retigabine in KCNQ2 encephalopathy and quinidine in KCNT1 encephalopathy. However, despite promising results in vitro, the outcomes related to these therapies were disappointing when administered to patients. Considering the pathologic mecha-nisms of causative mutations, sodium channel blockers are recommended for patients with KCNQ2 mutations, infantile epileptic encephalopathy patients with SCN2A mutations, and patients with SCN8A mutations. Levetiracetam can be considered for patients with STXBP1 mutations.