Table 1 Overview of reported cases with GABRG2(A106T) mutations.
Patient No | 1 [19] | 2 [19] | 3 [28] | 4 [28] | 5 [28] | 6 [28] | 7 [29] | 8 [29] | 9 [50] |
---|---|---|---|---|---|---|---|---|---|
Sex | Female | Male | Female | Male | Female | Female | Female | Female | Female |
Age at seizure onset | Day 1 | 3 months | 4 months | 6 weeks | Day 1 | Day 2 | Day 40 | Day 2 | |
Seizure types | GTCS,tonic, FS | Tonic, FS, atonic | GTCS, atonic | GTCS, FS | GTCS, FS, myoclonic | GTCS, FS, myoclonic | FS | FS; GTCS, SE | |
AED responses | LEV | No clear response | No clear response | No clear response | Pyridoxine OXC | LEV; OXC | VPA; OXC | TPM; LEV | No clear response |
Seizure Outcomes | Seizure-free | Intractable | Intractable | Intractable | Intractable | Seizure-free | Seizure-free | Seizure-free | Intractable |
MRI findings | Delayed myelination | Volume loss | Normal | Normal | Normal | Normal | Cortex dysplasia, delayed myelination | Normal | |
Visual impairment | No | No | Yes | No | Yes | Yes | No | No | |
Development | Delay | Delay | Delay | Delay | Delay | Delay | Delay | Delay |