Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

od Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter
Izdano u EMBO Mol Med (2015)

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

od Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter
Izdano u EMBO Mol Med (2017)

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

od Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C., Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A., Helbig, Katherine L., Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah
Izdano u Brain (2016)

The phenotypic spectrum of SCN8A encephalopathy

od Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.
Izdano u Neurology (2015)

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

od 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
Izdano u Hum Mol Genet (2015)

Diagnostic implications of genetic copy number variation in epilepsy plus

od Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla
Izdano u Epilepsia (2019)

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

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

od 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.
Izdano u Nat Genet (2015)

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 u Mol Genet Genomic Med (2016)

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

od de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber
Izdano u Mol Genet Genomic Med (2016)

NBEA: developmental disease gene with early generalized epilepsy phenotypes

od Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P.W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P.A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez-Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette JV, Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders-Blok, Lot, Veenstra-Knol, Hermine E., Baugh, Evan H., Brilstra, E.H., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Revah-Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.
Izdano u Ann Neurol (2018)