| 1 | EIEE47, EIEE90, FGF12, FGF13 |
| Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy | |
| Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium, Rees MI, Goldfarb M, Chung SK. | |
| Am J Hum Genet. Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. 2021 | |
| 2 | EIEE47, FGF12 |
| Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. | |
| Siekierska A, Isrie M, Liu Y, Scheldeman C, Vanthillo N, Lagae L, de Witte PA, Van Esch H, Goldfarb M, Buyse GM. | |
| Neurology 86(23):2162-70. doi: 10.1212/WNL.0000000000002752. 2016 | |
| 3 | EIEE47, FGF12 |
| FHF1 (FGF12) epileptic encephalopathy. | |
| Al-Mehmadi S, Splitt M; For DDD Study group*. | |
| Neurol Genet 2(6):e115. 2016 | |