| 1 | CACNA1A, EIEE41, EIEE42, EIEE43, GABRB3, SLC1A2
|
| De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
| Epi4K Consortium.
|
| Am J Hum Genet 99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28. 2016
|
| 2 | 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
|
| 3 | EIEE43, GABRB3
|
| GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
|
| Papandreou A, McTague A, Trump N, Ambegaonkar G, Ngoh A, Meyer E, Scott RH, Kurian MA.
|
| Dev Med Child Neurol 58(4):416-20. doi: 10.1111/dmcn.12976.
2016
|