Background Recent clinical evidence supports a targeted therapeutic approach for genetic
epileptic encephalopathies based on the molecular dysfunction. Patient description A 2-day-
old male infant presented with epileptic encephalopathy characterized by burst-suppression
EEG background and tonic-clonic migrating partial seizures. The condition was refractory to
phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response
to an intravenous loading dose of phenytoin was documented by video-EEG monitoring …