A 23 months old girl who was born via NSVD to G4P3 36 years old mother following an uneventful pregnancy. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. She seized at the 10th hour of life, and she was admitted to NICU. Comprehensive investigations were carried out, and they were negative. She continues to have break-through seizures despite a trial of multiple antiepileptic drugs. On examination, her growth parameters at 23 months were weight 9.6 kg (10th -25th percentile), height 79.5 cm (10th -25th percentile) and head circumference 51 cm (>98th percentile). Her dysmorphic features are macrocephaly, prominent forehead, downslanting epicanthal folds, anteverted nares, one café au lait spot and significant axial and appendicular hypotonia. Other examinations were within normal limits. 