Table 1.
Clinical, radiological, and genetic characteristics of the pediatric NF1 patients included in the study
| Patient ID/sex | Age at NF1 diagnosis (yrs) | Inheritance of NF1 | NF1 mutation | Family history of seizures | Age at onset of seizures (yrs) | Seizures semiology | EEG features | Age at MRI (yrs) | NBOs presence and location | Other radiological findings | Treatment | Neuro cognitive profile and personal history | Out come | Structural vs non structural and NF1 vs non NF1 related epilepsy |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1/M | 4.9 | P | c.2307_2308insC p.Thr770Hisfs*6 | + (P) | 9.2 | Oral automatisms, GTC | Focal, R posterior temporal region and secondary generalization | 9.5 | Absent | R mesial temporal sclerosis | CBZ, LEV | B | Structural non NF1 | |
| 2/M | 14.5 | S | c.1185 + 1G > A p.Asn355_Lys395del | + (Sister) | 0.4 | GTC, Ab | Normal | 10 | Absent | None | None | ID | C | Non structural |
| 3/M | 14.7 | S | 17q.11 microdeletion, Type1 | 0 | ES | Focal, L, parieto -occipital | 23 | Absent | Symmetrical WMI adjacent to trigones | PH, PB, LEV | ID, neonatal hypoxia | A | Structural non NF1 | |
| 4/M | 13 | S | c.5719G > T p.Glu1907* | + (P) | 13.8 | GTC | Normal | NA | LEV | ID, SD | A | Non structural | ||
| 5/M | 7.7 | S | NA | 4.8 | R clonic upper limb | Focal, left temporal | 8.2 | Bil Th | L basal ganglia gangliocytoma, OPG | Complete tumor excision, LEV, CL | ID | A | Structural NF1 | |
| 6/F | 0.5 | S | NA | 3.6 | GTC | Normal | NA | VPA, CL | DD | A | Non structural | |||
| 7/M | 2.4 | S | 17q.11 microdeletion, Type1 | 9.7 | GTC | Multifocal, asynchronous more prominent over the L hemisphere | 10.1 | Bil Th | None | VPA | ID, ASD, perinatal hypoxia | B | Non structural | |
| 8/M | 8 | P | c.6791_6792insA p.Tyr2264* | + (M) | 3.1 | MyA; GTC | Generalized | 9.5 | Bil Th | None | VPA, PH, LEV | ID, SD | B | Non structural |
| 9/F | 16.7 | M | Unknown; yet microdeletion, excluded | 3.4 | R upper limb rigidity | Multifocal posterior-temporal, L and R occipital | 18.2 | Bil Th; Bil Ce hemisphere; Br | L fronto-basal glioma | Radio therapy, CBZ | ID | C | Structural NF1 | |
| 10/M | 10 | M | c.6085-2A > T p.Val2029Lysfs*7 | 11.9 | My | Focal R parieto-occipital | 11.9 | Absent | Bilateral moyamoya | Bil indirect cerebral revascularization | A | Structural NF1 | ||
| 11/M | 3.4 | S | NA | 5.2 | GTC | Normal | 5.2 | Bil GP; Bil Th; L Ce hemisphere | Triventricular hydrocephalus, OPG | Ventriculo-peritoneal shunt | A | Structural NF1 | ||
| 12/F | 5.2 | M | c.7125delA p.Tyr2377Thrfs*20 | + (M) | 4.1 | Ab; GTC | Focal, R temporal | 4.2 | Bil Ce hemisphere | Symmetrical WMI adjacent to trigones, R corona radiata hyperintensity (Chemotherapy) | VPA | ID | B | Structural NF1 |
| 13/M | 5 | S | 17q.11 microdeletion, Type3 | 0 | Tonic motor activity and posturing, follone by cianosis | Focal, R temporal | 4.1 | Bil GP; Bil Th; Ce (L hemisphere and peduncle); Br | Symmetrical WMI adjacent to trigones | VPA, LEV | ID, neonatal hypoxia | B | Structural non NF1 | |
| 14/M | 1.7 | S | c.4100_4103dupGTTT p.Tyr1369Phefs*6 | 6.5 | GTC | Focal, R occipital | 6.6 | L GB; Bil Th; Ce (bil hemispheres and peduncles) | OPG | VPA | ID | C | Non structural | |
| 15/M | 3 | S | c.667 T > A p.Trp223Arg | + (M) | 5.6 | GTC | Focal, R occipital | 8 | Bil GP; Ce (bilateral hemispheres and peduncles); Br | None | VPA | A | Non structural | |
| 16/M | 5 | P | c.5425C > T p.Arg1809Cys | + (M) | 3.2 | My, GTC | Focal, L fronto-parietal | 3.2 | Absent | None | VPA | B | Non structural | |
| 17/M | 0.6 | P | c.3826C > T p.Arg1276* | + (M) | 2.4 | Ab | Normal | 3 | Absent | Delayed myelinization | CBZ | B | Non structural | |
| 18/F | 1.9 | S | c.4381delA p.Ile1461* |
7.3 | Aphasia | Focal, L frontal | 7.3 | R GP; Bil Th; Ce (bil hemespheres); Br | L frontal cortico-subcortical jatrogenic encephalomalacia; OPG | Subtotal resection of the tumor, T, PB | B | Structural NF1 | ||
| 19/M | 0.1 | S | NA | 10.6 | Versive | Focal, L parieto-occipital | 10.7 | Absent | L rolandic pylocytic astrocytoma | Subtotal resection of the tumor, LEV | ID | A | Structural NF1 |
Abbreviations: Ab absent, ASD autism spectrum disorder, Bil bilateral, Br brainstem, CBZ carbamazepine, Ce cerebellar, CL clonazepam, CPS complex partial seizures, DD developmental delay, ES epileptic spasms, F focal, GP globus pallidus, GTC generalized tonic-clonic, ID intellectual disability, L left, LEV levetiracetam, M maternal, My myoclonic, MyA myoclonic-astatic, NA not available, P paternal, PB phenobarbital, PH phenobarbital, PS partial seizures, R right, S sporadic, SD speech disorder, T topiramate, Th thalamus, VPA sodium valproate, WMI white matter injuries, A Seizure-free for more than 1 year, B persistent seizures, C loss to or unknown follow-up