Table 2.
Overview of demographics, genetic variants, clinical data, and EEG features.
| Patient numbera | Sexa | Age at last follow-upa | Genetic variant ALDH7A1 (NM_001182.4)a | Seizure onset agea | First EEG pattern | Early ictal events | EEG at last follow up (age) | ||
|---|---|---|---|---|---|---|---|---|---|
| Seizure types | ECS/EGS-only | Clinical-only | |||||||
| 1 | F | 2 mo | c.1279G>C, p.(Glu427Gln) homozygous | 1 h | ED bil (1 d) | SequentialTonicClonic | ECS (2 h) | + (2 d) | NA |
| 2 | M | 3 mo | c.1279G>C, p.(Glu427Gln) homozygous | 1 h | BS (1 d), synch, symm | SequentialTonicSpasms? | ECS, EGS-only (1 d) | + (1 d) | Normal (10 d) |
| 3 | M | 10 mo at death | Likely same as the younger brother, Patient 10 | 3 h | BSb (3 d) | SequentialMyoclonicTonicClonicAutomatisms | ECS (Ictal BS), EGS-only < 10 s (BRD) (3 d) | + (3 d) | Cont ED/SE (10 mo) |
| 4 | F | 18 mo | c.1008+1G>A homozygous | 1 h | BS (2 d), synch, symm | SequentialTonicMyoclonicClonicBehavioral arrest? | EGS-only (3 d) ECS, EGS-only (5 d) | + (3 d, 5 d) | Mild ISBA (1.5 y) |
| 5 | F | 2 y, 3 mo | c.1279G>C, p.(Glu427Gln) homozygous | 22 h | BS (1 d), synch, symm | SequentialMyoclonicTonicAutomatismsClonic? | ECS (Ictal BS), EGS-only (1 d) | + (1 d) | Normal (2.5 y) |
| 6 | M | 3 y, 3 mo | c.1279G>C, p.(Glu427Gln) homozygous | 12 h | BS (2 d), asynchc, symm | SequentialMyoclonic/ClonicTonicAutomatisms | EGS-only < 10 s (BRD) (2 d) | Not reported | Mild ED p-z (3 y) |
| 7 | M | 3 y, 4 mo | c.1279G>C, p.(Glu427Gln); c.834G>A, p.(Val 278=) | 4 d | BS (5 d), asynchc, symm | SequentialTonicMyoclonic/Clonic | ECS, EGS-only (9 d) | + (9 d) | Normal (2 y) |
| 8 | M | 16 y, 9 mo | c.1279G>C, p.(Glu427Gln); c.(650+244_650+ 254)_(695+951_695+ 962)del | 6 d | ED L o (8 d) | SequentialTonicClonic/MyoclonicAutomatisms | ECS, EGS-only (8 d) | + (20 d) | Mild DSBA (17 y) |
| 9 | F | 25 y | c.1279G>C, p.(Glu427Gln) homozygous | 6 h | BS (2 d), asynchc, symm | SequentialMyoclonicTonicClonicAutomatismsSpasms? | ECS, EGS-only (1 d) | + (9 d) | Mild ISBA (26 y) |
| 10 | F | 25 y | c.1513G>C, p.(Gly505Arg) homozygous | 1 d | BSb (2 d), synch | SequentialClonicTonic | ECS (5 d) | + (3 d) | Mild DSBA (21 y) |
| 11 | M | 26 y | c.1279G>C, p.(Glu427Gln); c.(650+244_650+ 254)_(695+951_695+ 962)del | 2 h | MF ED (1 d) | SequentialTonicClonicAutomatisms | No (PN 2 d) | + (2 d) | Moderate DSBA (20 y) |
| 12 | F | 32 y | c.1279G>C, p.(Glu427Gln); c.1513G>C, p.(Gly505Arg) | 2 d | ED MF (10 d) | TonicClonic | ECS (10 d) | Not reported | Mild DSBA (26 y) |
| 13 | M | 55 y | c.1279G>C, p.(Glu427Gln) homozygous | 4 h | Alternating bil high ampl delta slow wave (15 d) | TonicClonicMyoclonic? | No (first EEG 15 d) | Not reported | Mild DSBA (55 y) |
aFrom Jamali et al. (18).
bAmplitudes of suppression periods not specified but described as low voltage.
cBursts with asynchronous elements.
ampl, amplitude; asynch, asynchronous; bil, bilateral; BS, burst suppression; Cont, continuous, d, days; DSBA, diffuse slow background activity; ECS, electroclinical seizures; EGS, electrographic-only seizures; ED, epileptiform discharges; h, hours; ISBA, intermittent slow background activity; L, left; MF, multifocal; o, occipital; p-z, parietal midline; symm, symmetric; synch, synchronous.