Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition

- Palmer, Elizabeth E., Pusch, Michael, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Picollo, Alessandra, Rajagopalan, Sulekha, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Forwood, Caitlin, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Nguyen, Matthew H., Dupuis, L, Mendoza-Londono, R, Dudding-Byth, Tracy, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Suckow, Vanessa, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Gibbons, Jessica, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Hoff, Alva, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Sigfrid, Lisa, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Megarbane, Andre, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures

- Petrovski, Slavé, Kury, Sébastien, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele