A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey☆

por Arslan, Mutluay, Yiş, Uluç, Çağlayan, Hande, Akin, Rıdvan
Publicado 2013

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

por Türkdoğan, Dilşad, Matthews, Emma, Usluer, Sunay, Gündoğdu, Aslı, Uluç, Kayıhan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Çağlayan, Hande S.
Publicado 2019

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

por Krüger, Johanna, Schubert, Julian, Kegele, Josua, Labalme, Audrey, Mao, Miaomiao, Heighway, Jacqueline, Seebohm, Guiscard, Yan, Pu, Koko, Mahmoud, Aslan-Kara, Kezban, Caglayan, Hande, Steinhoff, Bernhard J., Weber, Yvonne G., Keo-Kosal, Pascale, Berkovic, Samuel F., Hildebrand, Michael S., Petrou, Steven, Krause, Roland, May, Patrick, Lesca, Gaetan, Maljevic, Snezana, Lerche, Holger
Publicado 2022

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

Pitfalls in genetic testing: the story of missed SCN1A mutations

por Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Publicado 2016