Prioritised candidate variants in genes with anecdotal evidence for an association with non-acquired focal epilepsy
| Patient ID, sex, age at onset (years) | Epilepsy phenotype | Gene (transcript) variants | In silico (CADD, pph2 and SIFT) | Allele frequency (gnomAD) |
| 13, f, 3 | HS/HA-TLE |
RBFOX1
NM_145891.2: c.1013G>A p.(Arg338His) | 35, D, T | 0.000012 |
| 47, m, 15 | MRI-negative UFE |
KCNA2
NM_004974.3: c.128G>A p.(Arg43Gln) | 32, D, D | 0.000003976 |
| 52, f, 5 | MRI-negative TLE |
MTOR
NM_004958.3: c.2069C>T p.(Ala690Val) | 28.2, PD, T | 0.00001194 |
| 90, m, 34 | MRI-negative TLE |
SCN3A
NM_001081676.1: c.770G>A p.(Cys257Tyr) | 27.3, D, D | 0.000003977 |
| 92, f, 14 | MRI-negative UFE |
MTOR
NM_004958.3 c.6649C>T p.(Arg2217Trp) | 35, D, D | 0 |
| 110, f, 15 | HS/HA-TLE |
KCNA2
NM_004974.3: c.209A>T p.(Asp70Val) | 25.5, D, D | 0 |
Patients with multiple rare variants are highlighted in grey.
AED, antiepileptic drug; CADD, combined annotation-dependent depletion; f, female; gnomAD, Genome Aggregation Database; HA, hippocampal atrophy; HS, hippocampal sclerosis; m, male; N/A, not applicable; OLE, occipital lobe epilepsy; pph2, PolyPhen-2 (B, benign; D, probably damaging; PD, possibly damaging); SIFT, sorting intolerant from tolerant (D, deleterious; T, tolerated); TLE, temporal lobe epilepsy; UFE, unclassified focal epilepsy; VUS, variant of uncertain significance.