![]() | Up a level |
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