| 1 | EEOC2, GPHN |
| Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. | |
| Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D; EuroEPINOMICS Dravet working group. | |
| EMBO Mol Med 7(12):1580-94. doi: 10.15252/emmm.201505323. 2015 | |
| 2 | EEOC2, GPHN |
| Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. | |
| Dejanovic B, Lal D, Catarino CB, Arjune S, Belaidi AA, Trucks H, Vollmar C, Surges R, Kunz WS, Motameny S, Altmüller J, Köhler A, Neubauer BA, Epicure Consortium, Nürnberg P, Noachtar S, Schwarz G, Sander T. | |
| Neurobiol Dis 67:88-96. doi: 10.1016/j.nbd.2014.02.001. 2014 | |