early infantile epileptic encephalopathy type 4

Genetics

• associated with defects in STXBP1

Clinical manifestations

• neonatal or infantile onset of seizures
• profound mental retardation

Diagnostic procedures

• electroencephalogram (EEG)
  • suppression-burst pattern on EEG

Radiology

• magnetic resonance imaging shows hypomyelination

More general terms

• infantile epileptic encephalopathy

Database

• OMIM: https://mirror.omim.org/entry/612164