Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function

por Rathje, Mette, Waxman, Hannah, Benoit, Marc, Tammineni, Prasad, Leu, Costin, Loebrich, Sven, Nedivi, Elly
Publicado 2019

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

por Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
Publicado 2020

SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities

por Macnee, Marie, Pérez-Palma, Eduardo, Schumacher-Bass, Sarah, Dalton, Jarrod, Leu, Costin, Blankenberg, Daniel, Lal, Dennis
Publicado 2021

Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population

por Leu, Costin, Richardson, Tom G., Kaufmann, Tobias, van der Meer, Dennis, Andreassen, Ole A., Westlye, Lars T., Busch, Robyn M., Davey Smith, George, Lal, Dennis
Publicado 2020

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

por 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
Publicado 2020

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

por Leu, Costin, Bautista, Jocelyn F., Sudarsanam, Monica, Niestroj, Lisa-Marie, Stefanski, Arthur, Ferguson, Lisa, Daly, Mark J., Jehi, Lara, Najm, Imad M., Busch, Robyn M., Lal, Dennis
Publicado 2020

Incidence and prevalence of major epilepsy-associated brain lesions

por 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
Publicado 2022

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

por Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Helbig, Ingo, Leu, Costin, Lal, Dennis
Publicado 2023

Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy

por Schoeler, Natasha E., Leu, Costin, Balestrini, Simona, Mudge, Jonathan M., Steward, Charles A., Frankish, Adam, Leung, Mary‐Anne, Mackay, Mark, Scheffer, Ingrid, Williams, Ruth, Sander, Josemir W., Cross, J. Helen, Sisodiya, Sanjay M.
Publicado 2018

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy

por Schoeler, Natasha E., Leu, Costin, White, Jon, Plagnol, Vincent, Ellard, Sian, Matarin, Mar, Yellen, Gary, Thiele, Elizabeth A., Mackay, Mark, McMahon, Jacinta M., Scheffer, Ingrid E., Sander, Josemir W., Cross, J. Helen, Sisodiya, Sanjay M.
Publicado 2015

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

por Stevelink, Remi, Luykx, Jurjen J., Lin, Bochao D., Leu, Costin, Lal, Dennis, Smith, Alexander W., Schijven, Dick, Carpay, Johannes A., Rademaker, Koen, Rodrigues Baldez, Roiza A., Devinsky, Orrin, Braun, Kees P. J., Jansen, Floor E., Smit, Dirk J. A., Koeleman, Bobby P. C.
Publicado 2021

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes

por Hoffmann, Lucas, Coras, Roland, Kobow, Katja, López-Rivera, Javier A., Lal, Dennis, Leu, Costin, Najm, Imad, Nürnberg, Peter, Herms, Jochen, Harter, Patrick N., Bien, Christian G., Kalbhenn, Thilo, Müller, Markus, Pieper, Tom, Hartlieb, Till, Kudernatsch, Manfred, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Blümcke, Ingmar, Jabari, Samir
Publicado 2023

Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway...

por Hoffmann, Lucas, Coras, Roland, Kobow, Katja, López-Rivera, Javier A., Lal, Dennis, Leu, Costin, Najm, Imad, Nürnberg, Peter, Herms, Jochen, Harter, Patrick N., Bien, Christian G., Kalbhenn, Thilo, Müller, Markus, Pieper, Tom, Hartlieb, Till, Kudernatsch, Manfred, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Blümcke, Ingmar, Jabari, Samir
Publicado 2023

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

por Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.
Publicado 2022

Postictal Psychosis in Epilepsy: A Clinicogenetic Study

por 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.
Publicado 2021

Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration...

por 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
Publicado 2023

Polygenic burden in focal and generalized epilepsies

por 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
Publicado 2019

The role of common genetic variation in presumed monogenic epilepsies

por Campbell, Ciarán, Leu, Costin, Feng, Yen-Chen Anne, Wolking, Stefan, Moreau, Claudia, Ellis, Colin, Ganesan, Shiva, Martins, Helena, Oliver, Karen, Boothman, Isabelle, Benson, Katherine, Molloy, Anne, Brody, Lawrence, Michaud, Jacques L., Hamdan, Fadi F., Minassian, Berge A., Lerche, Holger, Scheffer, Ingrid E., Sisodiya, Sanjay, Girard, Simon, Cosette, Patrick, Delanty, Norman, Lal, Dennis, Cavalleri, Gianpiero L.
Publicado 2022

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

por Männikkö, Roope, Wong, Leonie, Tester, David J, Thor, Michael G, Sud, Richa, Kullmann, Dimitri M, Sweeney, Mary G, Leu, Costin, Sisodiya, Sanjay M, FitzPatrick, David R, Evans, Margaret J, Jeffrey, Iona J M, Tfelt-Hansen, Jacob, Cohen, Marta C, Fleming, Peter J, Jaye, Amie, Simpson, Michael A, Ackerman, Michael J, Hanna, Michael G, Behr, Elijah R, Matthews, Emma
Publicado 2018

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

por 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
Publicado 2022