Table 1 Clinical features of patients with IRF2BPL variants
From: De novo variants of IRF2BPL result in developmental epileptic disorder
Clinical features | Patient 1 | Patient 2 | Patient 3 |
|---|---|---|---|
Variant | IRF2BPL: NM_024496.4, c.1171 C > T p.Arg391Cys | IRF2BPL: NM_024496.4, c.273_307del p.Ala92Thrfs*29 | IRF2BPL: NM_024496.4, c.1157 C > T p.Thr386Met |
Gender | Male | Male | Male |
ACMG classification | Likely pathogenic | Pathogenic | Likely pathogenic |
Current age | 14month | 2 year-6-month | 13 months |
Growth for age at most recent visit | Weighted 9.3 kg, hight 73 cm at 14 months | Weighted 12 kg hight 88 cm at 2 year-6-month | Weighted 10 kg hight 79 cm at 13 months; |
Development delays preceding regression | Yes | Yes | Yes |
Age of onset of motor regression | 5 month | 1 year and 5 month | 8 month |
Current speech and language skills | Only speak “baba, mama” | Only speak “Papa Mama” | No language |
Current gross motor skills | Start climb | Could not sit alone, climb and grasp | Sit alone and hold his head |
Seizures | Spasm combined with focal epilepsy, currently under control | Typical spasm. minor seizures were observed after reduced antiepileptic drugs | Spasm combined with focal epilepsy |
Movement abnormalities | No dyskinesia | Dyskinesia | No dyskinesia |
Other neurological findings | None | None | Hypertonia |
EEG | Abnormal EEG of infants, hypsarrhythmia, frequent series of epileptic spasmss and focal onset seizures were observed | Hypsarrhythmia, several isolated seizures were observed | Hypsarrhythmia. Frequent series of spasm, spasm mixed with wandering spasm were observed |
Brain MRI | Bilateral frontal and temporal subdural spaces were widened | Normal | The subarachnoid space of the frontal and temporal pole is slightly wider |