Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

por Boßelmann, Christian Malte, Hedrich, Ulrike B.S., Müller, Peter, Sonnenberg, Lukas, Parthasarathy, Shridhar, Helbig, Ingo, Lerche, Holger, Pfeifer, Nico
Publicado 2022

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

por Fan, Chunxiang, Wolking, Stefan, Lehmann-Horn, Frank, Hedrich, Ulrike BS, Freilinger, Tobias, Lerche, Holger, Borck, Guntram, Kubisch, Christian, Jurkat-Rott, Karin
Publicado 2016

Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

por Schwarz, Niklas, Uysal, Betül, Welzer, Marc, Bahr, Jacqueline C, Layer, Nikolas, Löffler, Heidi, Stanaitis, Kornelijus, PA, Harshad, Weber, Yvonne G, Hedrich, Ulrike BS, Honegger, Jürgen B, Skodras, Angelos, Becker, Albert J, Wuttke, Thomas V, Koch, Henner
Publicado 2019

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model

por Auffenberg, Eva, Hedrich, Ulrike B.S., Barbieri, Raffaella, Miely, Daniela, Groschup, Bernhard, Wuttke, Thomas V., Vogel, Niklas, Lührs, Philipp, Zanardi, Ilaria, Bertelli, Sara, Spielmann, Nadine, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Pusch, Michael, Dichgans, Martin, Lerche, Holger, Gavazzo, Paola, Plesnila, Nikolaus, Freilinger, Tobias
Publicado 2021

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

por Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.
Publicado 2016

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

por Syrbe, Steffen, Hedrich, Ulrike B.S., Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S., Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S., Arslan, Mutluay, Serratosa, José M., Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M., Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R.
Publicado 2015

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

por Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B.S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., 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, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne
Publicado 2022