BCKDK and Epileptic encephalopathy: In 3 of these patients, the genetic diagnosis led to the consideration of a specific treatment option for the disease, for instance, changes in dietary management for a patient with branched-chain ketoacid dehydrogenase kinase deficiency caused by BCKDK pathogenic variants (OMIM # 614,923); or ameliorated seizure management by adding a sodium channel blocker (oxcarbazepine) for a patient with epileptic encephalopathy caused by a KCNA1 variant (IDLNF52), which markedly improved seizure control [43].