Table 1 Clinical and genetic findings of the three Moroccan patients with epilepsy

Number

Patient 1 (P1)

Patient 2 (P2)

Patient 3 (P3)

Age

4 years

3 years

7 years

Age at onset

6 months

5 months

21 months

Sex

M

F

M

Consanguineous

No

No

No

Psychomotor development retardation

Yes

Yes

Yes

Interictal EEG

Extended EEG isolated points are seen over the frontocentral region

NA

Tonic seizures

Cerebral MRI

N

N

N

Drugs resistance

Yes

Yes

No

Gene/Transcript

SCN1A/NM_001202435

SCN1A/NM_001202435

SCN2A/NM_021007.2

Nucleotide change

c.4973C>A

c.3295G>T

c.1283A>G

Amino acid change

p.Thr1658Lys

p.Glu1099*

p.Tyr428Cys

Inheritance

AD

AD

AD

Origin of variant

De novo

De novo

De novo