Table 1 Proposed pathogenic gene, genetic function, variation, and therapeutic plan for reference
GGE | Pathogenic gene | Gene function | Variation discussed in article | Clinical significance | Treatment | Reference |
|---|---|---|---|---|---|---|
CAE | GABRG2 | GABA receptors | P83S R43Q | Likely pathogenic Pathogenic | Ethosuximide, Valproate | [51] [52] |
JAE | SLC2A1 | GLUT1 receptor | c.728A > T c.652C > A c.179C > T | Likely pathogenic Conflicting interpretations of pathogenicity conflicting Interpretations of pathogenicity | Ketogenic diet | [53] |
JME | GABRA1 | GABA receptor | A322D Phe104Cys c.-248 + 1G > T | Risk factor Not provided Uncertain significance | Valproate, Vigabatrin | [54] [55] |
EEM | CHD2 | Chromatin remodeling protein | c.3725delA c.4173dupA c.C653T | Pathogenic Pathogenic Likely pathogenic | Valproate, Antisense nucleotides | [56] [57] |
EMAtS | SCN1A | Voltage-dependent sodium channel | c.3925C > T L433fs*449 c.5104G > T | Conflicting interpretations of pathogenicity Not provided Likely pathogenic | Clobazam, Stiripentol | [58] [59] [60] |
SLC6A1 | GAT1 receptor | E16X G362R L460R W495X | Not provided | GAT1, Valproic acid, Tiagabine, Vigabatrin | [61] |