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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
2018
Heyne, Henrike O., Singh, Tarjinder ORCID: 0000-0003-0601-6815, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Moller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale ORCID: 0000-0002-6065-1476, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis and Lemke, Johannes R.
(2018).
De novo variants in neurodevelopmental disorders with epilepsy.
Nature Genet., 50 (7).
S. 1048 - 1056.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
2015
Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus ORCID: 0000-0001-5640-0888, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Schule, Rebecca ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R.
(2015).
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nature Genet., 47 (4).
S. 393 - 402.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus ORCID: 0000-0001-5640-0888, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Schule, Rebecca ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R.
(2015).
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nature Genet., 47 (4).
S. 393 - 402.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718