Mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been 
recently described in Ohtahara syndrome, or early infantile epileptic 
encephalopathy with suppression-burst pattern, and in other early-onset 
epileptic encephalopathies. A 3-year-old boy affected by epileptic 
encephalopathy started at 8 months of age is described. Focal epilepsy was 
characterized by drug resistance seizures with multifocal interictal and ictal 
electroencephalographic (EEG) features and variable EEG focus. Direct sequencing 
of the STXBP1 gene showed a novel de novo mutation (c.751G>A), leading to a 
p.Ala251Thr substitution. Based on reported data, treatment with vigabatrin was 
attempted and patient became immediately seizure free for 4 months. The present 
case further expands the clinical spectrum of "STXBP1-related encephalopathy" 
suggesting molecular analysis of STXBP1 in early onset epileptic 
encephalopathies of unknown etiology (with onset within the first year of life). 
In addition, the case provides valuable suggestions on seizures treatment in 
STXBP1 mutated subjects.