Table 2.
Phenotype table
| Previously reported patients with EIEE44 (19) | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|---|
| Sex, age | F, 8 yr | F, 7 yr | M, 19 yr | F, 16 yr | F, 7 yr | |
| Variants | p.Ala371Thr, p.Cys303R | p.Ala371T, p.Arg188* | p.Ala371Thr, p.Leu254Pro | p.Ala371Thr, p.Leu254Pro | p.Ala371Thr, p.Cys303R | |
| Hypotonia | 16/19 (84%) | + | + | + | + | + |
| Hypertonia/spasticity | 13/19 (68%) | + | + | + | + | + |
| Movement disorder | 15/19 (79%) | + | + | + | + | + |
| Seizures | 16/19 (84%) | + | + | + | + | + |
| GDD/ID | 18/19 (95%) | + | + | + | + | + |
| MRI abnormalities | 16/16 (100%) | + | + | + | + | + |
| Microcephaly | 17/19 (89%) | – | + | + | + | + |
| Failure to thrive | 14/19 (74%) | + | + | + | + | – |
(EIEE44) Early infantile epileptic encephalopathy-44, (GDD/ID) global developmental delay/intellectual disability, (MRI) magnetic resonance imaging, (+) is present, (–) is not present.