The American journal of human genetics Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001