Table 3 Common genetic causes in children with epilepsy

Tuberous sclerosis (TSC gene mutation)

3

Angel syndrome/pradar-Willi syndrome (UBE3A gene heterozygous deletion)

2

Dravet syndrome (SCN1A gene mutation)

2

Infantile epilepstic spasms syndrome (IESS) (trisomy 21, ARX gene mutation, CDKL5 gene mutation, STXBP1 gene mutation, IQSEC2 gene mutation, TSC1 gene mutation, and TSC2 gene mutation)

7

Trisomy 21 syndrome (karyotype analysis: 47, XY + 21)

1

Methylmalonic acidemia with hyper homocysteinemia

2

Y chromosome long arm deletion (deletion greater than 3372 Kb of Y chromosome long arm)

1

Karyotype analysis: 46, XY (Y is equivalent to 18)

1

SCN1A gene mutation (unclear clinical phenotype)

1

SCN2A gene mutation

1

SCN8A gene mutation

1

KCNO2 gene mutation

3

FASN gene mutation

1

PRRT2 gene mutation

1

KCNT1 gene mutation

1

PARS2 gene mutation

1

GRIN2B gene mutation

1

RHOBTB2 gene mutation

1

CDKL5 gene mutation

1

PCDH19 gene mutation

1

GABRB3 gene mutation

1

GABRA1 gene mutation

1

STXBP1 gene mutation

1

SLC35A2 gene mutation

1

UBA5 gene mutation

1

PACS1 gene mutation

1

ARID1B gene mutation

1

BRANBP2 gene mutation

1

ANKRD11, NOTCH1 gene mutation

1