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2023
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
2022
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
2020
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, 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
2018
May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin ORCID: 0000-0003-3026-3082, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven ORCID: 0000-0002-4960-6375, Mantegazza, Massimo ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland ORCID: 0000-0001-9938-7126 and Lerche, Holger
(2018).
Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol., 17 (8).
S. 699 - 709.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1474-4465
2014
Menzler, Katja, Hermsen, Anke, Balkenhol, Katharina, Duddek, Caroline, Bugiel, Hannes, Bauer, Sebastian, Schorge, Stephanie ORCID: 0000-0003-1541-5148, Reif, Philipp S., Klein, Karl Martin ORCID: 0000-0002-6654-1665, Haag, Anja, Oertel, Wolfgang H., Hamer, Hajo M., Knake, Susanne ORCID: 0000-0002-6298-0513, Trucks, Holger, Sander, Thomas and Rosenow, Felix
(2014).
A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability-A pharmacogenetic transcranial magnetic stimulation study.
Epilepsia, 55 (2).
S. 362 - 370.
HOBOKEN:
WILEY.
ISSN 1528-1167