Table 1 Clinical features of the previously reported individuals with TRIM8 variants and the present patient
Patient No | Neurological features | Renal manifestations | Ref | |||||
|---|---|---|---|---|---|---|---|---|
Age at first seizure | Seizure outcome | Other neurologic features | Proteinuria | Age at onset of proteinuria | Pathological diagnosis | Renal outcome | ||
I | 2 months | Not controlled on medication | Intellectual disability | No | NA | NA | NA | [3] |
II | 5 months | Rare seizures, partially, well controlled with levetiracetam | Intellectual disability, autism spectrum disorder | No | NA | NA | NA | [4] |
III | 5 years | Well controlled with sodium valproate | Mild intellectual disability | Yes (Nephrotic syndrome) | 2 years 2 months | FSGS | Progressed to end-stage renal disease | [6] |
IV | 21 months | NA | Developmental delay | No | NA | NA | NA | [4] |
V | 3 years and 5 months | Well controlled with levetiracetam | Developmental delay, mild head tremor, mild ataxic gait | Yes (Nephrotic syndrome) | NM | NM | Normal serum creatinine level | [4] |
VI | 2 years | Daily seizures | Intellectual disability, stereotypic behavior and ataxia | Yes (Nephrotic syndrome) | 4 years | NM | NM | [4] |
VII | 21 months | Not well controlled with levetiracetam | Hypotonia, hyporeflexia, and global developmental delay | Yes | 7–10 months | NM | Proteinuria resolved spontaneously | [4] |
VIII | 2 years and 5 months | Developed multi-focal drug resistant epilepsy | Intellectual disability and language delay | Yes (Nephrotic syndrome) | 2 years 5 months | FSGS | Progressed to end-stage renal disease | [5] |
IX | None | None | None | Yes (Nephrotic syndrome) | 3 years | FSGS, cystic dilatation of distal tubules | Progressed to end-stage renal disease | Present case |