In Table 2, three variants corresponding to the GABRP gene were incorrectly described. The R200H variant should be R200H/C, the S293P variant should be R293C, and the R389N variant should be D389N. Please see the corrected Table 2 here.
Table 2. Unique GABR variants from GECs reported in the 237 ion channel genes project1.
GABR gene | Variant | Occurrence of variants among GECs |
---|---|---|
GABRA1 | T20I* | 1 |
GABRA4 | H372P* | 1 |
GABRA5 | W280R* | 3 |
GABRA5 | P453L* | 1 |
GABRB2 | R293W* | 1 |
GABRG3 | A303T* | 1 |
GABRA4 | A19T* | 1 |
GABRA5 | V204I* | 1 |
GABRA5 | S402A* | 1 |
GABRA6 | Q237R* | 1 |
GABRB1 | H421Q* | 1 |
GABRB2 | R354C* | 2 |
GABRG1 | S16R* | 1 |
GABRG1 | S414N* | 1 |
GABRE | R472H | 1 |
GABRE | S484L | 1 |
GABRP | R200H/C | 2 |
GABRP | S292P | 1 |
GABRP | R293C | 1 |
GABRP | D389N | 1 |
GABRR2 | R287H | 1 |
GABRR2 | V294I | 2 |
GABRE | R452G | 1 |
GABRP | V349A | 5 |
Reference
- 1.Hernandez CC, Klassen TL, Jackson LG, Gurba K, Hu N, Noebels JL, et al. (2016) Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. PLoS ONE 11(9): e0162883 doi: 10.1371/journal.pone.0162883 [DOI] [PMC free article] [PubMed] [Google Scholar]