Universität zu Köln

Journal Article

Brunger, Tobias, Perez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Moller, Rikke S., Schorge, Stephanie ORCID: 0000-0003-1541-5148, Zuberi, Sameer ORCID: 0000-0002-4489-4697, Symonds, Joseph ORCID: 0000-0002-2141-4216, Lemke, Johannes R., Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Traynelis, Stephen F., May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2023). Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146 (3). S. 923 - 935. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Bruenger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni ORCID: 0000-0003-2611-0227, Vintan, Mihaela-Adela, Symonds, Joseph ORCID: 0000-0002-2141-4216, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nunez-Enamorado, Noemi, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Scott Perry, M., Pysden, Karen, Russ-Hall, Sophie J., Scheffer, Ingrid E., Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M., Lal, Dennis, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Mantegazza, Massimo ORCID: 0000-0002-1070-7929 and Cestele, Sandrine (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145 (11). S. 3816 - 3832. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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, Feng, Tony, Brunger, Tobias, Perez-Palma, Eduardo, Heyne, Henrike ORCID: 0000-0001-9893-3850, Matthews, Emma, Semsarian, Christopher, Symonds, Joseph D., Zuberi, Sameer M., Lal, Dennis and Schorge, Stephanie ORCID: 0000-0003-1541-5148 (2022). Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145 (12). S. 4275 - 4287. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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, Perez-Palma, Eduardo, Ghanty, Ismael, Xinge, Ji, Brilstra, Eva, Ceulemans, Berten ORCID: 0000-0001-7818-0679, Chemaly, Nicole, de Lange, Iris, Depienne, Christel ORCID: 0000-0002-7212-9554, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Mei, Davide, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An-Sofie, Symonds, Joseph D., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Kattan, Michael W., Zuberi, Sameer M. and Lal, Dennis (2022). Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology, 98 (11). S. E1163 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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

Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Bruenger, Tobias, Perez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Daly, Mark J., Campbell, Arthur J., Hoksza, David ORCID: 0000-0003-4679-0557, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2023). Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, 146 (2). S. 519 - 534. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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