Patient 4 is a female who is currently 2 years 10 months old. Developmental delay was observed with regard to lifting of her head only at the age of 7 months and the ability to sit independently only at the age of 1 year; she also did not have the ability to walk independently and did not display any non-verbal communication skills. Although she could say the words “baba” or “mama” at the age of 2 years, she displayed a regression in development and only showed signs of unconscious articulation subsequently. Poor eye contact, head shaking, hand clapping, hand wringing, and bruxism were observed at the age of 1 year 3 months. Purposeful hand use was presented and retained. She experienced recurrent, febrile or non-febrile, generalized tonic-clonic seizures at the age of 11 months. Dystonic seizure occurred at 14 months. LEV was administered at the age of 16 months and the patient achieved seizure-free status at the age of 2.5 years. Her EEG (15 months and 2.5 years) and MRI (3 year) findings revealed normal findings ().
Patient 3 is a female who is currently 4 years 4 months old. She showed some signs of developmental delay, such as lifting her head at the age of 5 months, sitting independently at the age of 9 months, and walking at the age of 2 years; she also did not exhibit any non-verbal communication skills and could not imitate actions or babble. Poor eye contact was observed at the age of 8 months. Hand clapping and hand wringing were observed when she was 1 year 6 months old. She demonstrated purposeful hand use, and at the age of 8 months, she experienced recurrent, febrile or non-febrile, generalized tonic-clonic seizures. She presented with status epilepticus, which later became absence status epilepticus at the age of 3 years 2 months. At this time, she was started on LEV medication but showed no response to it; subsequently, VPA was added to the treatment strategy at the age of 3 years 6 months, and the patient finally achieved a seizure-free status at the age of 4 years. Her EEG tests at the age of 15 months demonstrated sharp-slow synthetical waves at the left central and left parietal-frontal regions. EEG showed generalized sharp-slow waves and MRI findings indicated delayed myelination in the periventricular area at the age of 3 years 2 months ().