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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