| Literature DB >> 27870904 |
Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald.
Abstract
[This corrects the article DOI: 10.1371/journal.pone.0162883.].Entities:
Year: 2016 PMID: 27870904 PMCID: PMC5117773 DOI: 10.1371/journal.pone.0167264
Source DB: PubMed Journal: PLoS One ISSN: 1932-6203 Impact factor: 3.240
Unique GABR variants from GECs reported in the 237 ion channel genes project1.
1GECs = genetic epilepsy cases [20]. *GABR variants characterized in this study.
| Variant | Occurrence of variants among GECs | |
|---|---|---|
| T20I* | 1 | |
| H372P* | 1 | |
| W280R* | 3 | |
| P453L* | 1 | |
| R293W* | 1 | |
| A303T* | 1 | |
| A19T* | 1 | |
| V204I* | 1 | |
| S402A* | 1 | |
| Q237R* | 1 | |
| H421Q* | 1 | |
| R354C* | 2 | |
| S16R* | 1 | |
| S414N* | 1 | |
| R472H | 1 | |
| S484L | 1 | |
| R200H/C | 2 | |
| S292P | 1 | |
| R293C | 1 | |
| D389N | 1 | |
| R287H | 1 | |
| V294I | 2 | |
| R452G | 1 | |
| V349A | 5 |