Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Hardies, K.;May, P.;Djémié, T.;Tarta-arsene, O.;Deconinck, T.;Craiu, D.;Helbig, I.;Suls, A.;Balling, R.;Weckhuysen, S.;De Jonghe, P.;Hirst, J.;Afawi, Z.;Barisic, N.;Baulac, S.;Caglayan, H.;Depienne, C.;De Kovel, C. G. F.;Dimova, P.;Guerrero-lópez, R.;Guerrini, R.;Hjalgrim, H.;Hoffman-zacharska, D.;Jahn, J.;Klein, K. M.;Koeleman, B. P. C.;Leguern, E.;Lehesjoki, A. -.E.;Lemke, J.;Lerche, H.;Marini, C.;Muhle, H.;Rosenow, F.;Serratosa, J. M.;Møller, R. S.;Stephani, U.;Striano, P.;Talvik, T.;Von Spiczak, S.;Weber, Y.;Zara, F.

2015-01-01