Table 1 Clinical features, EEG findings, brain MRI features of patients enrolled into the study and their WES results summarized
Patient ID/sex/age of onset | Pregnancy/delivery/Apgar scores/clinical features at presentation | Initial EEG | Brain MRI/MRS (age) | Candidate variant, gene, inheritance pattern |
|---|---|---|---|---|
NE_NS 001/M/ 2 days | Oligohydramnios/planned C-section/9 and 9/poor feeding, hypotonia, lip smacking, encephalopathy, hypoglycemia | Excessive background discontinuity, bilateral independent sharp transients | Global cortical and bilateral putamen diffusion restriction, diffuse WM edema/prominent lactate peak (4 days) | Hemizygous, novel, c.632A>G (p.Asn211Ser) in CUL4B/X-linked, maternal |
NE_NS 002/F/2 days | Unremarkable/vaginal forceps/3, 5, and 7/apnea, desaturations at delivery, right-sided seizures | Discontinuous background, multifocal sharp waves | Bilateral diffusion restriction in putamen, thalamus, hippocampi, corticospinal tracts, cerebral peduncles, dorsal pons/large lactate peak (4 days) | None |
NE_NS 004/M/3 days (died 6 days) | Unremarkable/not known discharged 24 h/lethargy, fever, poor feeding, focal seizures, hypoglycemia | Discontinuous background, multiple multifocal subclinical seizures originating from bilateral temporo-occipital head region | Diffuse bilateral symmetrical diffusion restriction of the cerebral cortex and basal ganglia, diffuse WM edema, massive cerebral injury/lactate peak (5 days) | None |
NE_NS 005/F/36 h | Unremarkable/C-section for fetal heart rate decelerations/9 and 9/apnea, cyanosis, GTS, lip smacking | Burst suppression, ictal EEG with generalized high-amplitude spike and sharp waves | Inferior basal ganglia hyperintensity in T1 weighted image/NP (6 days) | Heterozygous novel de novo c.634G>T (p.Asp212Tyr) in KCNQ2/AD |
NE_NS 007/F/10 min | Unremarkable/vaginal delivery/7 and 7/hypotonia, apnea, GTS | Discontinuous background, bilateral negative rolandic sharp waves | Bilateral subdural, subarachnoid, and intraventricular hemorrhages and anterolateral temporal ischemic changes, diffuse WM edema/normal (2 days) | None |
NE_NS 008/M/12 h | Unremarkable/vaginal vacuum/3 and 6/eye blinking, bicycling, GTS, apnea | Discontinuous background, intermittent sharp waves | Diffuse brain edema with effacement of ventricular lumen and pericerebral space/small lactate peak (1 day) | None |
NE_NS 009/F/8 h | Unremarkable/vaginal vacuum/8 and 9/GTCS | Discontinuous background, frequent temporal sharp waves | Bilateral cortical T1 hyperintensity in posterior temporal and perisylvian gyri, T2 hyperintensity in thalami/normal (7 days) | Homozygous c.1894G>A (p.Gly632Ser) in AACS/AR/parents heterozygous |
NE_NS 010/M/at birth | Gestational DM/vaginal/0, 0, and 8/poor tone and apnea at birth, mild hypoxic-ischemic encephalopathy, GTCS 6 days | Discontinuous background, bilateral temporal sharp waves | Bilateral increased signal in frontal and peritrigonal WM in T1/normal (8 days) | Heterozygous de novo, novel c.118G>A (p.Gly40Arg) in GNAO1/AD |
NE_NS 011/F/6 h | Gestational DM/C-section for failure to progress/7 and 9/hypoglycemia (1 h) GTCS, apnea | Discontinuous background, burst suppression pattern, central midline sharp waves | Bilateral diffuse cortical and subcortical WM diffusion restriction most prominent in occipital lobes/normal (1 day) | None |
NE_NS 015/F/6 days | Unremarkable/vaginal/6 and 8/apnea, focal tonic seizures | Discontinuous background, bilateral central temporal sharp waves | Bilateral frontoparietal subcortical WM T2 hyperintensity/normal (9 days) | Heterozygous, novel, de novo, c.4633A>G (p.Met1545Val) in SCN2A/AD |
NE_NS 016/F/21 h | Oligohydramnios/vaginal/8 and 9/focal seizures | Discontinuous background, bilateral central and temporal rolandic sharp waves | Bilateral cortical subcortical, deep WM and basal ganglia diffusion restriction/normal (2 days) | None |
NE_NS 017/F/24 h | Gestational DM/vaginal delivery/7 and 8/hypotonia, focal seizures and GTCS | Discontinuous background, bilateral central temporal sharp waves | Bilateral diffuse cortical, corpus callosum splenium, thalamus and posterior limb internal capsules diffusion restriction/normal (2 days) | Heterozygous, novel, de novo, c.1692G>A (p.Met564Ile) in RAI1/AD |
NE_NS018/F/2 days | Unremarkable/vaginal delivery term/7 and 9/GTCS | Bilateral central temporal sharp waves | Symmetrical diffusion restriction in frontal, perirolandic, and occipital white matter, increased T2 signal in medial thalami/normal (3 days) | None |
NE_NS019/F/1 day | Unremarkable/C-section/8 and 9/focal and GTCS | Multifocal frequent sharp waves, discontinuous background | Diffuse symmetrical white matter diffusion restriction (2 days), progressive diffusion restriction in white matter, brainstem, cerebellar white matter (9 days)/increased glycine peak | Compound heterozygous c.757G>C (p.Ala253Pro, maternal)/c.708T>G (p.His236Gln, paternal) in LIAS/AR |
