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 7 is a female who is currently 2 years 5 months old. She experienced severe hypotonia at infancy and was observed to have developmental delay. She was incapable of both lifting her head at the age of 7 months and sitting independently at the age of 2 years; she was also unable to walk independently, demonstrated no non-verbal communication skills, and was unable to imitate or babble. Poor eye contact as well as head-shaking and hand-clapping behavior were observed at the age of 1 year. She did not display purposeful hand usage. She did not experience seizure. EEG test conducted at the age of 2 years revealed 2–3 Hz sharp-slow waves at the left parietal-occipital region. MRI scans taken at the age of 14 months showed malformation of the corpus callosum, delayed myelination and leukomalacia in the periventricular region ().