| 1 | DEE109, FZR1 |
| De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. | |
| Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. | |
| Brain Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409. 2022 | |
| 2 | DEE109, FZR1 |
| A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy. | |
| Rodríguez C, Sánchez-Morán I, Álvarez S, Tirado P, Fernández-Mayoralas DM, Calleja-Pérez B, Almeida Á, Fernández-Jaén A. | |
| J Neurochem. Oct;151(1):103-115. doi: 10.1111/jnc.14828. Epub 2019 Aug 22. 2019 | |