Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy von de Lange, IM, Helbig, KL, Weckhuysen, S, Møller, RS, Velinov, M, Dolzhanskaya, N, Marsh, E, Helbig, I, Devinsky, O, Tang, S, Mefford, HC, Myers, CT, van Paesschen, W, Striano, P, van Gassen, K, van Kempen, M, de Kovel, CG, Piard, J, Minassian, BA, Nezarati, MM, Pessoa, A, Jacquette, A, Maher, B, Balestrini, S, Sisodiya, S, Warde, MT, De St Martin, A, Chelly, J, EuroEPINOMICS-RES MAE Working Group, van 't Slot, R, Van Maldergem, L, Brilstra, EH, Koeleman, BP

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