Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic 
seizures beginning in the first months of life, abnormal background EEG 
activity, and are associated with severe developmental delay and poor prognosis. 
Mutations and deletions in the STXBP1 gene are associated with Ohtahara 
syndrome, also known as "early infantile epileptic encephalopathy". We report an 
infant affected by EOEE with a 9q34.11 deletion that encompassed the genes 
STXBP1 and SPTAN1. The infant presented with neonatal encephalopathy without 
epileptic seizures and an EEG pattern varying from highly discontinuous to 
suppression-burst. This was followed by West syndrome at 2 months with atypical 
hypsarrhythmia and spasms, easily controlled by therapy. Our findings suggest 
that molecular analysis of STXBP1 should be considered for newborns affected by 
neonatal encephalopathy associated with a peculiar EEG pattern, even in the 
absence of neonatal epileptic seizures.