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2022
Schwarz, Niklas ORCID: 0000-0002-4064-3073, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brunger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan
ORCID: 0000-0003-4986-8006, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Heimer, Gali, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Kearney, Hugh
ORCID: 0000-0003-2320-3487, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Kousiappa, Ioanna
ORCID: 0000-0002-7491-5946, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick
ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Helbig, Ingo and Weber, Yvonne
(2022).
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology, 98 (20).
S. E2046 - 14.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
2021
Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Hedrich, Ulrike B. S., Lerche, Holger, Lemke, Johannes R., van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E., Rehm, Heidi L., McLaughlin, Heather, Bolz, Hanno J., Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan and Baehring, Robert
(2021).
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum. Mol. Genet., 30 (23).
S. 2300 - 2315.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
2017
Wolff, Markus ORCID: 0000-0001-5640-0888, Johannesen, Katrine M., Hedrich, Ulrike B. S., Masnada, Silvia
ORCID: 0000-0003-3850-8849, Rubboli, Guido
ORCID: 0000-0002-5309-2514, Gardella, Elena
ORCID: 0000-0002-7138-6022, Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Ville, Dorothee, Milh, Mathieu, Villard, Laurent
ORCID: 0000-0001-6657-5008, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline
ORCID: 0000-0003-1272-0518, Schwarz, Niklas, Gerard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stephane, Miranda, Maria J., Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P., Mancini, Grazia, Biskup, Saskia, Hoertnagel, Konstanze, Doecker, Miriam, Bast, Thomas, Loddenkemper, Tobias
ORCID: 0000-0003-2074-0674, Wong-Kisiel, Lily, Baumeister, Friedrich M., Fazeli, Walid, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Dilena, Robertino
ORCID: 0000-0003-1064-1840, Fontana, Elena
ORCID: 0000-0002-4553-2452, Zara, Federico
ORCID: 0000-0001-9744-5222, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G., Arndt, Daniel H., Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brueckner, Reinhard, Pietz, Joachim, Golla, Guenther, Jillella, Dinesh
ORCID: 0000-0002-5399-0170, Linnet, Karen M., Charles, Perrine, Moog, Ute, Oiglane-Shlik, Eve, Mantovani, John F., Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G. Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L., Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Lemke, Johannes R., Kraegeloh-Mann, Ingeborg, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Kluger, Gerhard, Lerche, Holger and Moller, Rikke S.
(2017).
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain, 140.
S. 1316 - 1337.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
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