| 1 | DMXL2, EIEE81 |
| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course | |
| Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. | |
| Brain Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Erratum in: Brain. 2020 Feb 1;143(2):e16. 2019 | |
| 2 | DMXL2, EIEE81 |
| Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. | |
| Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW. | |
| J Neurodev Disord. Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3 2019 | |