Universität zu Köln

Journal Article

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Duhring, Schorge, Stephanie, Baez-Nieto, David, Wang, Hao-Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Moller, Rikke S. and Lal, Dennis (2020). Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia, 61 (3). S. 387 - 400. HOBOKEN: WILEY. ISSN 1528-1167

Brunklaus, Andreas ORCID: 0000-0002-7728-6903 and Lal, Dennis (2020). Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application. Dev. Med. Child Neurol., 62 (7). S. 784 - 793. HOBOKEN: WILEY. ISSN 1469-8749

Brunklaus, Andreas, Leu, Costin, Gramm, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Iqbal, Sumaiya and Lal, Dennis (2020). Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. Eur. J. Paediatr. Neurol., 24. S. 35 - 40. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Schorge, Stephanie, Smith, Alexander D., Ghanty, Ismael, Stewart, Kirsty, Gardiner, Sarah, Du, Juanjiangmeng, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Symonds, Joseph D., Collier, Abby C., Lal, Dennis and Zuberi, Sameer M. (2020). SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. Hum. Mutat., 41 (2). S. 363 - 375. HOBOKEN: WILEY. ISSN 1098-1004

Du, Juanjiangmeng, Simmons, Sean, Brunklaus, Andreas, Adiconis, Xian, Hession, Cynthia C., Fu, Zhanyan, Li, Yinqing, Shema, Reut, Moller, Rikke S., Barak, Boaz, Feng, Guoping, Meisler, Miriam, Sanders, Stephan, Lerche, Holger, Campbell, Arthur J., McCarroll, Steven, Levin, Joshua Z. and Lal, Dennis (2020). Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. Eur. J. Paediatr. Neurol., 24. S. 129 - 134. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Heyne, Henrike O., Baez-Nieto, David, Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Palmer, Duncan S., Brunklaus, Andreas ORCID: 0000-0002-7728-6903, May, Patrick ORCID: 0000-0001-8698-3770, Johannesen, Katrine M., Lauxmann, Stephan, Lemke, Johannes R., Moller, Rikke S., Perez-Palma, Eduardo, Scholl, Ute, I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J., Wang, Hao-Ran, Pan, Jen and Daly, Mark J. (2020). Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Sci. Transl. Med., 12 (556). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1946-6242

Lopez-Rivera, Javier A., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Symonds, Joseph ORCID: 0000-0002-2141-4216, Lindy, Amanda S., McKnight, Dianalee A., Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Moller, Rikke S. and Lal, Dennis (2020). A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain, 143. S. 1099 - 1106. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156