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

door Arslan, Mutluay, Yiş, Uluç, Çağlayan, Hande, Akin, Rıdvan
Gepubliceerd in 2013

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

door Türkdoğan, Dilşad, Matthews, Emma, Usluer, Sunay, Gündoğdu, Aslı, Uluç, Kayıhan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Çağlayan, Hande S.
Gepubliceerd in Epilepsia Open (2019)

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

door Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.
Gepubliceerd in 2009

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

door Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer, Afawi, Zaid, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Depienne, Christel, De Kovel, Carolien G.F., Dimova, Petia, Guerrero-López, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jahn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose M., Møller, Rikke S., Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, Von Spiczak, Sarah, Weber, Yvonne, Zara, Federico
Gepubliceerd in Hum Mol Genet (2015)

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

door Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo
Gepubliceerd in 2013

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

door 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.
Gepubliceerd in Nat Genet (2015)

Pitfalls in genetic testing: the story of missed SCN1A mutations

door 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
Gepubliceerd in Mol Genet Genomic Med (2016)