Table 1.
Electrophysiological findings of our series.
| Gender, Age |
Epileptic Syndrome | Seizure Type | Age at Onset | Awake EEG BA | Awake EEG EA | Sleep EEG BA | Sleep EEG EA | Response to AEDs | MCDs on MRI | Genetic Findings | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPILEPTIC PATIENTS | |||||||||||
| TUBA1A | |||||||||||
| P45617 | F, 13 yrs 3 mo |
Focal symptomatic epilepsy | Spasms, FS |
18 mo, 3 yrs |
Irregular Low voltage | 0 | Irregular BFA Asynchronous |
SA EA Right TO |
Controlled (ACTH; VPA) | Perisylvian dysgyria | c.466C > G (p.R156G) |
| P89815 § | F, 3 yrs 3 mo |
Focal symptomatic epilepsy | FS | 21 days | Irregular Asym Slowing BFA |
SA paroxysmal Rght CO | Irregular Asym Asynchronous |
SA EA Right CO Left CT asynchronous | Controlled (LEV) | PMG-multi | c.4C > A (p.R2S) |
| 17656 § | M, 13 yrs 4 mo |
Focal symptomatic epilepsy | Myoclonic, focal SE, SF | 3 mo | Irregular Slowing |
0 | Irregular Asym |
SA paroxysmal -EA Left C PO | Controlled (VPA, ETS) | No MCD | c.1169G > A (p.R390H) |
| TUBB2B | |||||||||||
| P76712 § | M, 10 yrs 9 mo |
Focal symptomatic epilepsy | Spasms, FS | 18 mo | Irregular Asym BFA |
SA Left CT |
Irregular Asym BFA |
SA EA Left CT and diffuse |
Partially controlled (VPA) | Generalized PMG + SCH | c.1060T > C (p.C354R) de novo |
| P38408 § | F, 16 yrs 8 mo |
Focal symptomatic epilepsy | Spasm, FS | 5 mo | Irregular Asym Slowing BFA |
0 | Irregular Asym BFA NEM |
SA EA Right C |
Controlled (VPA, LTG) | Generalized PMG + SCH | c.419G > C (p.G140A) de novo |
| P78511 § | F, 39 yrs |
Focal symptomatic epilepsy | Spasms, FS | 7 mo | Irregular Slow voltage BFA |
SA paroxysmal bilateral diffuse positive ILS |
NA | NA | Controlled (ACTH, PB, CBZ) | Symp_Gyr, periv heterotopia, subcortical linear heterotopia, small temporal lobes | c.1080_1084delCCTGAinsACATCTTC [p.L361_K362delinsHLQ) de novo |
| NON EPILEPTIC PATIENTS | |||||||||||
| TUBA1A | |||||||||||
| P78411 § | M, 7 yrs 6 mo |
no | no | / | Irregular Asym Slowing BFA |
no | Irregular Asym BFA Asynchronous |
SA C bilateral Left predominance | / | No MCD | c.175G > A (p.G59S) de novo |
| P113708 §
I-3 |
M, 56 yrs 4 mo |
no | no | / | NA | NA | NA | / | Perisylvian-PMG | c.161G > A (p.S54N) | |
| P113708 §
II-1 |
F, 25 yrs 4 mo |
no | no | / | Irregular Slowing Low voltage |
0 | NA | NA | / | Perisylvian-PMG | c.161G > A (p.S54N) |
| P113708 §
II-2 |
F, 25 yrs 4 mo |
no | no | / | Irregular Slowing Low voltage BFA |
0 | NA | NA | / | Perisylvian-PMG | c.161G > A (p.S54N) |
| P76111 § | F, 12 yrs 3 mo |
no | no | / | Irregular Asym. Slowing BFA Low voltage |
0 | Irregular Asym Asynchronous |
SA bilateral diffuse |
/ | No MCD | c.1160C > T (p.A387V) de novo |
| TUBB3 | |||||||||||
| P17816 § | F, 4 yrs |
no | no | / | NO | NA | NA | NA | / | no MCD | c.1228G > A (p.E410K) de novo |
| 105814 § | M, 4 yrs 9 mo |
no | no | / | Irregular Slowing |
0 | Irregular Asym Asynchronous |
SA Right PO and diffuse | / | no MCD | c.862G > A (p.E288K) de novo |
| P120818 | M, 34 yrs |
no | no | / | NA | NA | NA | NA | / | No MCD | c.689C > T (p.S230L) |
| P109418 | M, 12 yrs |
no | no | / | Irregular Slowing |
SA PO bilateral |
Irregular Asynchronous |
SA paroxysmal PO bilateral |
/ | Perisylvian PMG | c.728C > T (p.P243L) |
AEDs: Antiepileptic drugs; Asym: asymmetric; BA: Background activity; BFA: burst of fast activity; C: central; cn: cranic nerve; EA: Epileptiform Abnormalities; F: female; FS: focal seizures; ISL: intermittent light stimulation; L: Left; LTG: Lamotrigine; M: male; MCDs: malformations of cortical development; mo: months; NA: not available; NEM: not-epileptic myoclonus; no: not observed; O: occipital; P: parietal; PMG: Polymicrogyria; PMG-multi: multifocal Polymicrogyria; R: right; S: Sleep; SCH: Schizencephaly; Symp_Gyr: simplified gyral pattern with focal polymicrogyria: SA: slow abnormalities, SE: status epilepticus; T: temporal; VPA: Valproic acid; W: Wakefulness; yrs: years. § Patients already reported (Romaniello, Arrigoni, Panzeri et al., Eur Radiol (2017) 27:5080-5092.