Table 2.
Molecular findings and clinical features of PIK3C2B URV-positive patients in this study
| Patient ID | Molecular findings | Clinical findings | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Transcript annotation (NM_002646) | Protein change | CADD v1.4 | AC | Sex | AAO, years | Drug resistance | Psychiatric comorbidities/ID | EEG | Brain MRI | |
| AU-1 | c.2424_2426delTGG;c.2419_insGAGGCCCCAAG | p.E807fs45* | — | 0 | M | 31 | No | Yes/NA | Normal | Normal |
| GE-1 | c.3353G>T | p.R1118L | 28.7 | 0 | F | 11 | No | No/NA | Normal | Normal |
| IT-10 | c.3880G>C | p.E1294Q | 21.5 | 0 | M | 5 | No | No/No | Interictal epileptiform abnormalities, L T ictal recording of HM seizure | Normal |
| GE-2 | c.3894T>G | p.Y1298* | 36 | 0 | M | 17 | No | Yes/NA | Ictal recording of seizure, R T (mesial onset) interictal theta abnormalities, bil F-T | Cavernoma, T mesialright side |
| IT-14 | c.4597C>T | p.Q1533* | 43 | 0 | F | 4 | Yes | No/No | Interictal epileptiform abnormalities, R F ictal recording of HM seizure | Normal |
| IT-15 | c.4632T>G | p.I1544M | 22.6 | 0 | F | 2 | Yes | Yes/No | Interictal epileptiform abnormalities, L T | Suggestive of HS, L T |
AAO = age at onset; protein change = in bold font, loss-of-function variants; CADD = CADD Phred score v1.4; AC = minor allele counts in gnomAD v2.1.1; bil = bilateral; F = frontal; F-T = fronto-temporal; HM = hypermotor; HS = hippocampal sclerosis; ID = intellectual disability/borderline IQ; L = left; R = right; T = temporal; NA = not applicable.