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Journal Article
Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina ORCID: 0000-0001-9912-3112, May, Patrick
ORCID: 0000-0001-8698-3770, Moller, Rikke S.
ORCID: 0000-0002-9664-1448 and Lal, Dennis
(2023).
Data-driven historical characterization of epilepsy-associated genes.
Eur. J. Paediatr. Neurol., 42.
S. 82 - 88.
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
Doring, Jan H., Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Klabunde-Cherwon, Annick, Kluger, Gerhard, Muhle, Hiltrud, Pendziwiat, Manuela, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Platzer, Konrad, Santos, Joana Larupa, Schroter, Julian, Hoffmann, Georg F., Kolker, Stefan and Syrbe, Steffen
(2022).
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Neurol.-Genet., 8 (5).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas ORCID: 0000-0002-0119-5896, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W. Y., Ahring, Philip K., Moller, Rikke S.
ORCID: 0000-0002-9664-1448 and Gardella, Elena
(2022).
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet. Med., 24 (3).
S. 681 - 694.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1530-0366
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
Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Moller, Rikke S. ORCID: 0000-0002-9664-1448, King, Mary D., Hammer, Trine Bjorg, Spaull, Robert
ORCID: 0000-0003-4096-6945, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M. and Kurian, Manju A.
(2021).
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Neurology, 96 (11).
S. E1539 - 12.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed
ORCID: 0000-0001-9067-5017, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico
ORCID: 0000-0001-9744-5222, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Christensen, Jakob
ORCID: 0000-0002-9385-6435, Gronborg, Sabine, Scherer, Stephen W.
ORCID: 0000-0002-8326-1999, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara
ORCID: 0000-0002-4403-6342, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena
ORCID: 0000-0001-5602-2805, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Muller-Schluter, Karen, Bassan, Haim
ORCID: 0000-0003-1627-8069, Borovikov, Artem
ORCID: 0000-0001-5871-8005, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna
ORCID: 0000-0002-3835-2824, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann
ORCID: 0000-0002-1593-6149, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brunger, Tobias, May, Patrick
ORCID: 0000-0001-8698-3770, Lal, Dennis, Lederer, Damien, Rubboli, Guido
ORCID: 0000-0002-5309-2514, Heyne, Henrike O., Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger and Moller, Rikke S.
ORCID: 0000-0002-9664-1448
.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156