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 1 is a 5-year-old girl, who was observed to have severe hypotonia in her infancy and developmental delay. She was incapable of lifting her head when she was 7-month-old as well as was incapable of sitting by herself and had trouble imitating speech or actions when she was 1-year-old. By the age of 14 months, she was found to lack the ability to maintain eye contact and displayed head-shaking, hand-clapping and hand-wringing as well as bruxism. While she exhibited purposeful hand use, she presented recurrent, febrile or non-febrile, generalized tonic-clonic seizures at the age of 18 months. After receiving treatment with Levetiracetam (LEV) at 20 months, she achieved seizure-free status at the age of 2 years. At the age of 18 months and 2 years, the findings of her EEG tests revealed spike-and-slow waves with bilateral temporal involvement. Her MRI findings at the age of 14 months indicated a widened subarachnoid space ().