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2023
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
2022
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
2021
Salles, Philippe A., Mata, Ignacio F., Bruenger, Tobias, Lal, Dennis and Fernandez, Hubert H. (2021). ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum. Front. Neurol., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-2295
2020
Bayat, Allan ORCID: 0000-0003-4986-8006, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert ORCID: 0000-0002-9743-4205, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R., Moura de Souza, Carolina Fischinger, Freihuber, Cecile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Guerrot, Anne-Marie, Hansen, Lars, Jezela-Stanek, Aleksandra ORCID: 0000-0001-9814-0324, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R., Korff, Christian M., Hansen, Johanne Kragh, Larsen, Martin, Layet, Valerie, Lesca, Gaetan, McBride, Kim L., Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline ORCID: 0000-0003-1272-0518, Nougues, Marie-Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H., Skinner, Steven, Szczaluba, Krzysztol, Thomas, Ashley, Thomassen, Mads, Tranebjaerg, Lisbeth, van Slegtenhorst, Marjon, Wolfe, Lynne A., Lal, Dennis, Gardella, Elena, Ousager, Lilian Bomme, Bruenger, Tobias, Helbig, Ingo, Krawitz, Peter and Moller, Rikke S.
(2020).
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia, 61 (6).
S. 1142 - 1156.
HOBOKEN:
WILEY.
ISSN 1528-1167
2019
Johannesen, Katrine M., Gardena, Elena, Encinas, Alejandra C., Lehesjoki, Anna-Enna, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice ORCID: 0000-0002-7457-2779, Giacomini, Thea ORCID: 0000-0002-7802-8789, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Burki, Sarah, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza ORCID: 0000-0001-5645-021X, Veggiotti, Pierangelo, Lal, Dennis, Bruenger, Tobias, Zara, Federico, Striano, Pasquale ORCID: 0000-0002-6065-1476, Rohholi, Guido and Moller, Rikke S.
(2019).
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia, 60 (5).
S. 830 - 845.
HOBOKEN:
WILEY.
ISSN 1528-1167