| 1 | EIEE53, SYNJ1 |
| Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. | |
| Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. | |
| Brain 139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19. 2016 | |