Table 3 Most commonly observed putative pathogenic variants from whole-exome sequencing across 144 Saudi epilepsy patients
Mutation type, gene and position | Study subject | Age of onset | Gender | Other family members affected | Management | Response to treatment |
|---|---|---|---|---|---|---|
In-frame insertion in NIPA2 Pathogenic p.N334_E335insD (chr15: 23006299) | 002 | 7 | M | No | Mono | Yes |
009 | 16 | M | No | Mono | Yes | |
040 | 2 | F | No | Poly | Partial | |
044 | 24 | M | Yes | Mono | Yes | |
050 | 15 | F | No | Mono | Yes | |
057 | 1 | M | No | Poly | Partial | |
089 | 15 | M | Yes | n/a | n/a | |
Missense variant in SH2B3 Pathogenic c.622G > C p.Glu208Gln (chr12: 111856571) | 021 | n/a | M | No | Mono | Yes |
037 | 8 | F | No | Poly | Yes | |
043 | 13 | F | No | Mono | Yes | |
138 | 26 | F | No | Poly | Yes | |
Missense variant in CHRNA4 Pathogenic c.839C > T p.Ser280Phe (chr20: 61981924) | 055 | 31 | F | Yes | n/a | n/a |
098 | 13 | M | n/a | n/a | n/a | |
106 | n/a | F | n/a | n/a | n/a | |
121 | 5 | F | No | Mono | Yes | |
Missense variant in STIL Pathogenic c.1455G > C p.Leu485Phe (chr1: 47746675) | 094 | 23 | M | No | n/a | n/a |
128 | 19 | M | No | Poly | Yes | |
134 | 15 | F | Yes | Mono | Yes | |
Missense variant in WARS2 Pathogenic c.37 T > G p.Trp13Gly (chr1: 119683231) | 070 | 22 | M | n/a | n/a | n/a |
129 | 16 | M | No | Poly | Yes | |
135 | 9 | M | Yes | Poly | Yes |