Fry, A E, Marra, C, Derrick, A V, Pickrell, W O, Higgins, A T, te Water Naude, J, McClatchey, M A, Davies, S J, Metcalfe, K A, Tan, H J, Mohanraj, R, Avula, S, Williams, D, Brady, L I, Mesterman, R, Tarnopolsky, M A, Zhang, Y, Yang, Y, Wang, X, Rees, M I, Goldfarb, M & Chung, S K 2021, ' Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy ', American Journal of Human Genetics, vol. 108, no. 1, pp. 176-185 . https://doi.org/10.1016/j.ajhg.2020.10.017 Am J Hum Genet