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Table 1 Clinical, radiological, and genetic characteristics of the pediatric NF1 patients included in the study

From: Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

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
  1. 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
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