Table 3. Clinical and radiological features of NE accompanied by hypoxic brain damage, with diagnosed pathogenic genetic variants.
| Patient | Gene | ACMG classification | Nucleotide change | Amino-acid change | Sex | Ventilator duration (days) | Seizure onset age (days) | ASM | Epilepsy syndrome | Eye contact | Ketogenic diet | MRI findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | ENG | Likely pathogenic | c.154G>C | p.Gly52Arg | M | 191 | 1 | Single | - | Y | N | Diffuse excessively large signals in WM ICH of posterior cingulate |
| P2 | CACNA1A | Likely pathogenic | c.1841T>C | p.Ile614Thr | F | - | 2 | Multiple | - | Y | N | T2 hyperintensity bilaterally in anterior temporal lobes |
| P3 | CACNA1A | Likely pathogenic | c.4177G>A | p.Val1393Met | M | - | 1 | Multiple | - | Y | E | T1 hyperintensity bilaterally in globus pallidum |
| P4 | KCNQ2 | Pathogenic | c.601C>T | p.Arg201Cys | M | 27 | 3 | Multiple | EIEE → IS | N | N/E | Diffuse excessively large signals in periventricular WM with mild brain atrophy |
| P5 | KCNQ2 | Pathogenic | c.601C>T | p.Arg201Cys | M | 4 | 1 | Multiple | EIEE | N | N/E | CC thinning Diffuse excessively large signals in WM |
| P6 | NSD1 | Likely pathogenic | c.3549dupT | p.Glu1184Ter | M | - | - | N | - | Y | N | CC thinning Diffuse excessively large signals in WM |
| P7 | PURA | Likely pathogenic | c.72dup | p.Gly25ArgfsTer176 | M | 21 | 3 | Multiple | - | N | N | T2 hyperintensity bilaterally in periventricular WM and BG |
| P8 | SCN2A | Pathogenic | c.5308A>G | p.Met1770Val | M | 34 | 1 | Multiple | EIEE → IS | N | E | Multiple T1 hyperintensities in deep WM |
| P9 | SCN8A | Likely pathogenic | c.4398C>A | p.Asn1466Lys | F | 2 | 2 | Multiple | LGS | N | N/E | Diffusion restriction bilaterally in parietal WM |
| P10 | STXBP1 | Likely pathogenic | c.1216C>T | p.Arg406Cys | M | - | 7 | Multiple | IS | Y | E | Diffusion restriction bilaterally in frontal periventricular WM |
| P11 | ZBTB20 | Pathogenic | c.1492C>T | p.Gln498Ter | F | 25 | 1 | Single | - | Y | N | Multifocal hemorrhage T2 hyperintensity in WM |
ACMG, American College of Medical Genetics; ASM, antiseizure medication; BG, basal ganglia; CC, corpus callosum; E, effective; EIEE, early infantile epileptic encephalopathy; F, female; ICH, intracerebral hemorrhage; IS, infantile spasm; LGS, Lennox-Gastaut syndrome; M, male; MRI, magnetic resonance imaging; N, no; NE, neonatal encephalopathy; N/E, not effective; WM, white matter; Y, yes.