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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, 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, 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