Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
Published in Epilepsia (Copenhagen) (01.01.2021)
Published in Epilepsia (Copenhagen) (01.01.2021)
Get full text
Journal Article
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
López-Rivera, Javier A, Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Bhattarai, Nisha, Pérez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Bien, Christian G, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmüller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M, Nürnberg, Peter, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Published in Brain (London, England : 1878) (19.04.2023)
Published in Brain (London, England : 1878) (19.04.2023)
Get full text
Journal Article
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
Get full text
Journal Article
Web Resource
Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb
Honke, Jonas, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Leu, Costin, Pieper, Tom, Hartlieb, Till, Bien, Christian G, Woermann, Friedrich, Cloppenborg, Thomas, Kalbhenn, Thilo, Gaballa, Ahmed, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Dörfler, Arnd, Rampp, Stefan, Lemke, Johannes R, Baldassari, Sara, Baulac, Stéphanie, Lal, Dennis, Nürnberg, Peter, Blümcke, Ingmar
Published in Acta neuropathologica communications (09.11.2023)
Published in Acta neuropathologica communications (09.11.2023)
Get full text
Journal Article
Incidence and prevalence of major epilepsy-associated brain lesions
López-Rivera, Javier A., Smuk, Victoria, Leu, Costin, Nasr, Gaelle, Vegh, Deborah, Stefanski, Arthur, Pérez-Palma, Eduardo, Busch, Robyn, Jehi, Lara, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Published in Epilepsy & behavior reports (01.01.2022)
Published in Epilepsy & behavior reports (01.01.2022)
Get full text
Journal Article
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
Leu, Costin, de Kovel, Carolien G.F., Zara, Federico, Striano, Pasquale, Pezzella, Marianna, Robbiano, Angela, Bianchi, Amedeo, Bisulli, Francesca, Coppola, Antonietta, Giallonardo, Anna Teresa, Beccaria, Francesca, Trenité, Dorothée Kasteleijn-Nolst, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kleefuß-Lie, Ailing A., Hallman, Kerstin, Kunz, Wolfram S., Elger, Christian E., Muhle, Hiltrud, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Serratosa, Jose M., Rosenow, Felix, Feucht, Martha, Unterberger, Iris, Covanis, Athanasios, Suls, Arvid, Weckhuysen, Sarah, Kaneva, Radka, Caglayan, Hande, Turkdogan, Dilsad, Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Trucks, Holger, Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., Sander, Thomas
Published in Epilepsia (Copenhagen) (01.02.2012)
Published in Epilepsia (Copenhagen) (01.02.2012)
Get full text
Journal Article
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis
Published in Brain (London, England : 1878) (01.04.2020)
Published in Brain (London, England : 1878) (01.04.2020)
Get full text
Journal Article
Progress from genome-wide association studies and copy number variant studies in epilepsy
Leu, Costin, Coppola, Antonietta, Sisodiya, Sanjay M
Published in Current opinion in neurology (01.04.2016)
Published in Current opinion in neurology (01.04.2016)
Get more information
Journal Article
Polygenic burden and its association with baseline cognitive function and postoperative cognitive outcome in temporal lobe epilepsy
Arrotta, Kayela, Ferguson, Lisa, Thompson, Nicolas, Smuk, Victoria, Najm, Imad M., Leu, Costin, Lal, Dennis, Busch, Robyn M.
Published in Epilepsy & behavior (01.04.2024)
Published in Epilepsy & behavior (01.04.2024)
Get full text
Journal Article
Polygenic burden in focal and generalized epilepsies
Leu, Costin, Stevelink, Remi, Smith, Alexander W, Goleva, Slavina B, Kanai, Masahiro, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Koeleman, Bobby P C, Lerche, Holger, Jehi, Lara, Davis, Lea K, Najm, Imad M, Palotie, Aarno, Daly, Mark J, Busch, Robyn M, Lal, Dennis
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
Get full text
Journal Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Jurkute, Neringa, Leu, Costin, Pogoda, Hans‐Martin, Arno, Gavin, Robson, Anthony G., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Höhne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nürnberg, Peter, Yu‐Wai‐Man, Patrick, Votruba, Marcela
Published in Annals of neurology (01.09.2019)
Published in Annals of neurology (01.09.2019)
Get full text
Journal Article
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis
Published in Brain (London, England : 1878) (01.07.2020)
Published in Brain (London, England : 1878) (01.07.2020)
Get full text
Journal Article
Diagnostic implications of genetic copy number variation in epilepsy plus
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, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna‐Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Dijck, Anke, Zuffardi, Orsetta
Published in Epilepsia (Copenhagen) (01.04.2019)
Published in Epilepsia (Copenhagen) (01.04.2019)
Get full text
Journal Article
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Sønderby, Ida E, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Armstrong, Nicola J, Blangero, John, Boomsma, Dorret I, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Calhoun, Vince, Caspers, Svenja, Corvin, Aiden, Crespo-Facorro, Benedicto, Dazzan, Paola, de Geus, Eco J C, Delanty, Norman, Desrivières, Sylvane, Draganski, Bogdan, Ehrlich, Stefan, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Groenewold, Nynke A., Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon H. J., Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Jernigan, Terry, Jockwitz, Christiane, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kelly, Sinead, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Pausova, Zdenka, Penninx, Brenda, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Sachdev, Perminder, Schmaal, Lianne, Schofield, Peter R, Schumann, Gunter, Steen, Vidar M, Stein, Dan J, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Turner, Jessica, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D, Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Agartz, Ingrid, Westlye, Lars T, Jacquemont, Sébastien, Djurovic, Srdjan, Thompson, Paul, Andreassen, Ole A.
Published in Molecular psychiatry (01.03.2020)
Published in Molecular psychiatry (01.03.2020)
Get full text
Journal Article
CHD2 variants are a risk factor for photosensitivity in epilepsy
Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Camila V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M
Published in Brain (London, England : 1878) (01.05.2015)
Published in Brain (London, England : 1878) (01.05.2015)
Get full text
Journal Article
Postictal Psychosis in Epilepsy: A Clinicogenetic Study
Braatz, Vera, Martins Custodio, Helena, Leu, Costin, Agrò, Luigi, Wang, Baihan, Calafato, Stella, Rayner, Genevieve, Doyle, Michael G., Hengsbach, Christian, Bisulli, Francesca, Weber, Yvonne G., Gambardella, Antonio, Delanty, Norman, Cavalleri, Gianpiero, Foong, Jacqueline, Scheffer, Ingrid E., Berkovic, Samuel F., Bramon, Elvira, Balestrini, Simona, Sisodiya, Sanjay M.
Published in Annals of neurology (01.09.2021)
Published in Annals of neurology (01.09.2021)
Get full text
Journal Article