Clinical and neurophysiological phenotypes in neonates with BRAT1 encephalopathy

Source
Neurology - ISSN 0028-3878- (2023) p. 1-17
Author(s)
    Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J. Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah Morris-Rosendahl, Greta Conti, Nipa Mitra, F. Lucy Raymond, David H. Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valerie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Source
Molecular psychiatry - ISSN 1359-4184-28 (2023) p. 668-697
Author(s)
    Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogne, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stephanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Vera M. Kalscheuer

KCNQ2- and KCNQ3-associated epilepsy

Source
Cambridge, Cambridge University Press, 2022,99 p.
Author(s)

Current practice in diagnostic genetic testing of the epilepsies

Source
Epileptic disorders - ISSN 1294-9361-24:5 (2022) p. 765-786
Author(s)
    Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel Lowenstein, Rikke S. Moller, Annapurna Poduri, Lynette Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne Weber, Johannes R. Lemke