Table 1.
Phenotypic information and repeat expansion results from WGS and repeat-primed PCR for individuals in Family A and B.
| Family | Individual | Ethnicity | Age studied (y)/gender | FAME affected status | Age of symptom onset | Cortical tremor (onset) | Myoclonic seizures (onset) | Seizure types (onset) | EEG abnormalities | WGS repeat expansion predictions | Repeat-Primed PCR | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FAME1-TTTTA | FAME1-TTTCA | FAME1-AAAAT | FAME1-TTTCA | ||||||||||
| A | II-1 | Sri Lankan | 72 M | Unaffected | – | – | – | – | – | Not done | Not done | No expansion | No expansion |
| A | II-2 | Sri Lankan | 71 F | Affected | 21 y | Y (unknown) | N |
FIAS (21 y) TCS (21 y) |
Not available | Expansion | Expansion | Expansion | Expansion |
| A | II-5 | Sri Lankan | 68 F | Affected | 25 y | Y (25 y) | N | TCS (25 y) | Not available | Not done | Not done | Expansion | Expansion |
| A | III-1 | Sri Lankan | 46 F | Unaffected | – | – | – | – | – | Expansion | No expansion | Expansion | No expansion |
| A | III-2 | Sri Lankan | 30 F | Affected | 25 y | Y (unknown) | Y (25 y) | Photic-induced TCS (27 y) | Generalized 4–6 Hz spike-wave, HV and photic induced 5-6 Hz occipital spike wave and poly-spike wave | Expansion | Expansion | Expansion | Expansion |
| A | III-3 | Sri Lankan | 41 F | Affected | 25 y | Y (27 y) | Y (25 y) |
FIAS (27 y) TCS (27 y) |
Left temporoparietal spikes | Not done | Not done | Expansion | Expansion |
| B | II-5 | Indian | 76 F | Affected | 21 y | Y (21 y) | N | Focal NCSE (60 y) | Ictal recording—electrographically in NCSE with right frontal predominance | Expansion | Expansion | Expansion | Expansion |
| B | II-6 | Indian | 73 M | Affected | 29 y | Y (29 y) | N | TCS (36 y) | Right temporal slowing | Not done | Not done | Expansion | Expansion |
| B | II-7 | Indian | 68 M | Affected | Late teens | Y (late teens) | N |
TCS (55 y) FIAS (unknown) |
Normal | Expansion | Expansion | Expansion | Expansion |
| B | II-8 | Indian | 65 M | Affected | Late 20s | Y (unknown) | Unknown | TCS (adult life) | Not available | Not done | Not done | Expansion | Expansion |
EEG electroencephalogram, F female, FIAS focal impaired awareness seizures, HV hyperventilation, M male, N no, NCSE non-convulsive status epilepticus, TCS tonic-clonic seizures, y years, Y yes