| 1 | EIEE43, EIEE45, GABRB1, GABRB3 |
| Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function. | |
| Janve VS, Hernandez CC, Verdier KM, Hu N, Macdonald RL. | |
| Ann Neurol nn Neurol. 2016 Mar 7. doi: 10.1002/ana.24631. [Epub ahead of print] 2016 | |
| 2 | EIEE45, GABRB1 |
| A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. | |
| Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G. | |
| Ann Neurol 80(2):311-2. doi: 10.1002/ana.24699. No abstract available. 2016 | |