Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

od Ortega-Moreno, Laura, Giráldez, Beatriz G., Soto-Insuga, Victor, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Díaz-Gómez, Esther, Guerrero-López, Rosa, Serratosa, José M.
izdano v PLoS One (2017)

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

od 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
Izdano 2013

Pitfalls in genetic testing: the story of missed SCN1A mutations

od 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
izdano v Mol Genet Genomic Med (2016)