Table 2.

Description of disease causing variants at 15 patients.

No	Gender	Age of genetic analysis	Disease causing variants
SCN1A gene
1	Male	15 months	c.4852+2T>A; p.? (het.), splice effect
2	Male	12 months	c.4251+2T>C (het), splice effect
No	Gender	Age	Disease causing variants
CDKL5 gene
1	Female	3.4 years	chrX:18627006TC>T (het.) c.2022delC p.Phe675fs
2	Female	13 months	chrX:18622134GAAAGCTTCCT>G c.1094_1103delGCTTCCTAAA p.Ser365fs
3	Female	9 months	chrX:18646628CCT>C (het.) c.2635_2636delCT p.Leu879fs
No	Gender	Age	Disease causing variants
MECP2 gene
1	Female	1.7 years	chrX:153296090c>T (hem.) p.E409K
2	Female	3.8 years	c.808C>T, (het.) p.(Arg270*)
FOXG1 gene
1	Female	2 years	heterozyg c 797 T>A; p.1266N
STXBP1 gene
1	Male	5 months	chr9:130428485G>A (het.) c.704G>A p.Arg235Gln
UBE3A gene
1	Female	8 months	Heterozygous microdeletion of gene UBE3A region 15q11.2 (SNRPN-u5–0.58; SNRPN-CpG isl−0.55; UBE3A-10–0.55; UBE3A-1–0.55)
2	Female	16 months	microdeletion of gene UBE3A region 15q11.2 hg18 loc: 15-023.201527 heterozyg
PCDH19 gene
1	Female	3 years	chrX:99662504C>CG rs758946412 (het.) c.1091dupC p.Tyr366fs. 1 exon
ATP7A gene
1	Male	11 months	chrX:77264673C>G (hem.) ATP7A NM_000052.6 c.1782C>G p.Tyr594*
FOLR1 gene
1	Male	8 years	chr11:71906498C>T (het.) FOLR1 c.352C>T p.Gln118* and chr11:71906764 T>G c.466T>G p.Trp156Gly
PNPO gene
1	Male	2.5 months	PNPO c.673C>T; p.Arg225Cys (homo)