Results 11 to 20 of about 2,936,182 (239)
KBG syndrome mimicking genetic generalized epilepsy [PDF]
Epilepsy & Behavior Reports, 2022 •Several conditions may mimic Genetic Generalized Epilepsy GGE.•GGE is less frequently misdiagnosed compared to other subtypes of epilepsy.•KBG syndrome is a rare autosomal dominant condition.•KBG syndrome may mimic GGE.M.J. Murphy, N. McSweeney, G.L. Cavalleri, M.T. Greally, K.A. Benson, D.J. Costello +5 moredoaj +7 more sourcesA natural marmoset model of genetic generalized epilepsy [PDF]
Molecular Brain, 2022 Epilepsy has been extensively studied as a common neurological disease. Efforts have been made on rodent and other animal models to reveal the pathogenic mechanisms of epilepsy and develop new drugs for treatment.Xiangyu Yang, Zhitang Chen, Ziying Wang, Guang He, Zhiqiang Li, Yongyong Shi, Neng Gong, Binglei Zhao, Yifang Kuang, Eiki Takahashi, Weidong Li +10 moredoaj +3 more sourcesGenetic generalized epilepsy
, 2016 This chapter provides an overview of generalized epilepsies (GGE), which comprises a group of epilepsy syndromes of presumed genetic origin. They are classified into several syndromes according to their age, depending on clinical manifestation and associated electroencephalogram (EEG) features.Friederike Moeller, Ronit M. Pressler, J. Helen Cross +2 moreopenaire +2 more sourcesEEG in genetic generalized epilepsies
Эпилепсия и пароксизмальные состояния, 2020 Genetic, or idiopathic, generalized epilepsies (GGEs or IGEs) includes childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (GTCS-a).Aim.V. Yu. Nogovitsyn, A. A. Sharkovdoaj +3 more sourcesGeneralized Epilepsy and Febrile Seizures Syndrome
Pediatric Neurology Briefs, 1999 A childhood-onset, genetic epilepsy syndrome, recently described in a single Australian family and characterized as “generalized epilepsy with febrile seizures plus” (GEFS+), is reported in an additional 63 patients from 9 families evaluated at the ...J Gordon Millichapdoaj +2 more sourcesGWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture [PDF]
, 2023 : Epilepsy is a highly heritable disorder affecting over 50\u2009million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into Hung, Po-Cheng, Stewart, William C., Leu, Costin, Hegde, Manu, Hucks, Donald, Yapici, Zuhal, Faucon, Annika, Stroink, Hans, Todaro, Marian, Bobbili, Dheeraj R., Krenn, Martin, Chinthapalli, Krishna, Krause, Roland, Lerche, Holger, Montomoli, Martino, Bisulli, Francesca, Canavati, Christina, Davis, Lea K., Korczyn, Amos D., Ferri, Lorenzo, Tsai, Meng-Han, Lal, Dennis, Abou-Khalil, Bassel, Compston, Alastair, Berghuis, Bianca, Johnson, Michael R., Okada, Yukinori, Kesim, Yescommaim, Ryvlin, Philippe, Hirsch, Edouard, Pickrell, William O., Mirza, Nasir, Lin, Kuang-Lin, Anderson, Joseph, Riva, Antonella, Magnusson, Sigurdur, Cheung, Ching-Lung, Zimprich, Fritz, Derambure, Philippe, Castellotti, Barbara, Becker, Albert J., Hakonarson, Hakon, Marson, Anthony G., Adesoji, Oluyomi M., Lesca, Gaetan, Lowenstein, Daniel H., Bianchini, Claudia, Pato, Michele T., Pendziwiat, Manuela, Lewis-Smith, David, Eriksson, Johan G., Ishii, Atsushi, Ellis, Colin A., Striano, Pasquale, Tinuper, Paolo, Rademacher, Annika, Stevelink, Remi, Franceschetti, Silvana, Suzuki, Toshimitsu, Palotie, Aarno, Zagaglia, Sara, Anderson, Alison, Kasperaviciute, Dalia, Balagura, Ganna, Borggraefe, Ingo, Ali, Quratulain Zulfiqar, Madia, Francesca, Afawi, Zaid, Noethen, Markus M., Stefansson, Hreinn, Greenberg, David A., Busch, Robyn M., Doccini, Viola, Iacomino, Michele, Elger, Christian E., Pangilinan, Faith, Sander, Thomas, Imbach, Lukas L., Knowlton, Robert C., Minardi, Raffaella, Hjalgrim, Helle, Lui, Colin H.T., Churchhouse, Claire, Ragona, Francesca, Kara, Bulent, Hirose, Shinichi, Howrigan, Daniel P., Fitzgerald, Mark, Kanaan, Moien, Yang, Wanling, Scala, Marcello, Kariuki, Symon M., Tozzi, Rossana, Fonferko-Shadrach, Beata, Sham, Pak, Neale, Benjamin M., Rhelms, Sylvain, Zahnert, Felix, Kousiappa, Ioanna, Kurlemann, Gerhard, McGraw, Christopher M., Lau, Yu-Lung, Lacey, Austin, Schachter, Steven C., Newton, Charles R.J.C., Schubert-Bast, Susanne, von Wrede, Randi, Cusick, Caroline, Pato, Carlos N., Sheidley, Beth R., Chassoux, Francine, Lauxmann, Stephen, Kalviainen, Reetta, Vining, Eileen P.G., Tauboll, Erik, Campbell, Ciaran, Andrade, Danielle M., Sander, Josemir W., Leech, Stephanie L., Kirsch, Heidi E., Kluger, Gerhard, Landoulsi, Zied, Parrini, Elena, Chung, Seo-Kyung, Moller, Rikke S., Speed, Doug, van Brauchitsch, Sophie, Barba, Carmen, Campbell, Ellen, Chen, Siwei, Haas, Kevin F., Daly, Mark J., Schoch, Susanne, Tumiene, Birute, Bahlo, Melanie, Berkovic, Samuel F., Dlugos, Dennis J., Gjerstad, Leif, Guerrini, Renzo, Bennett, Caitlin A., Kegele, Josua, Scudieri, Paolo, Krey, Ilona, Olafsson, Elias, Timonen, Oskari, Ozkara, Cigdem, Licchetta, Laura, Nothnagel, Michael, Gagliardi, Monica, Thomas, G. Neil, Baum, Larry, Helbig, Ingo, de Haan, Gerrit-Jan, Kuzniecky, Ruben, Lindhout, Dick, Papacostas, Savvas S., Wolff, Markus, Sonsma, Anja C.M., Weckhuysen, Sarah, Auce, Pauls, Nasreddine, Wassim, Najm, Imad M., Goldman, Alicia, Hassanin, Emadeldin, King, Chontelle, Pippucci, Tommaso, Stefansson, Kari, Franke, Andre, Craig, John J., Molloy, Anne M., Khoueiry-Zgheib, Nathalie, Li, Gloria H.-Y., Taneja, R.S., Topaloglu, Pinar, French, Jacqueline A., Li, Qingqin S., Lewin, Naomi, Weisenberg, Judith, Labate, Angelo, Baker, Mark D., Visscher, Frank, Sadleir, Lynette G., Pondrelli, Federica, Clark, Peggy O., Privitera, Michael, Strzelczyk, Adam, Lopes-Cendes, Iscia, Goldberg, Ethan, Oliver, Karen L., Widdess-Walsh, Peter, Shih, Jerry J., Devinsky, Orrin, Granata, Tiziana, Stephani, Ulrich, Saarela, Anni, Weber, Yvonne G., Mei, Davide, Thomas, Rhys H., Turkdogan, Dilsad, Barboza, Karen, Poduri, Annapurna, Cascino, Gregory D., Heyne, Henrike O., Smith, Philip E., Brockmann, Knut, Balestrini, Simona, Baumgartner, Tobias, Yucesan, Emrah, Cosico, Mahgenn, Feucht, Martha, Giangregorio, Tania, Beydoun, Ahmad, Yamakawa, Kazuhiro, Surges, Rainer, Powell, Rob H.W., Weller, Michael, Bosselmann, Christian, Zhou, Wei, Braatz, Vera, Rees, Mark I., Delanty, Norman, Geller, Eric B., Amadori, Elisabetta, Zara, Federico, Kwan, Patrick, Lemke, Johannes R., Avbersek, Andreja, Annesi, Grazia, Klein, Karl M., Mills, James L., Glauser, Tracy, Rau, Sarah, Scheffer, Ingrid E., Rosenow, Felix, Di Vito, Lidia, Caglayan, Hande, Kurki, Mitja I., Cossette, Patrick, Schulze-Bonhage, Andreas, Jehi, Lara, Hengsbach, Christian, Muccioli, Lorenzo, Kamatani, Yoichiro, Kantanen, Anne-Mari, May, Patrick, O'Brien, Terence J., van Baalen, Andreas, Gambardella, Antonio, Knake, Susanne, Feng, Yen-Chen A., Tan, K. Meng, Heinzen, Erin L., Schankin, Christoph J., Steinhoff, Bernhard J., Unnsteinsdottir, Unnur, Vetro, Annalisa, Coppola, Antonietta, Nuernberg, Peter, Bartolomei, Fabrice, Freri, Elena, Utkus, Algirdas, Cherny, Stacey S., Bast, Thomas, Regan, Brigid M., Cerrato, Felecia, Cole, Andrew J., El-Naggar, Hany, Stipa, Carlotta, Hallmann, Kerstin, Bradfield, Jonathan P., Schmitz, Bettina, Trenite, Dorothee Kasteleijn-Nolst, Doherty, Colin P., Sills, Graeme J., Muhle, Hiltrud, Cavalleri, Gianpiero L., Krestel, Heinz, Sperling, Michael R., Kato, Mitsuhiro, Fortunato, Francesco, Inoue, Yushi, Smith, Michael C., Zsurka, Gabor, Koeleman, Bobby P.C., Radtke, Rodney, Vaidiswaran, Priya, Becker, Felicitas, Canafoglia, Laura, Lehesjoki, Anna-Elina, Petrovski, Slave, Wolking, Stefan, Tanteles, George A., Depondt, Chantal, Wagner, Ryan G., Ferguson, Lisa, Buono, Russell J., Sisodiya, Sanjay M., Linnankivi, Tarja, Thio, Liu Lin, Baykan, Betul, Jamnadas-Khoda, Jennifer, Wu, David, Bebek, Nerses, Valton, Luc, Mostacci, Barbara, Blatt, Ilan, Chou, I-Jun, Reif, Philipp S., Pinsky, Rebecca, Catarino, Claudia B., Ferraro, Thomas N., Gupta, Namrata, Mueller-Schlueter, Karen, Kanai, Masahiro, Scattergood, Theresa, Kunz, Wolfram S., Brody, Lawrence C., Koupparis, Andreas, Neubauer, Bernd +318 morecore +7 more sourcesShared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations [PDF]
, 2021 Objective: Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Opleiding Neurologie, Brain, Hersenen-Medisch 1, Neurologen, Circulatory Health, Onderzoek, Genetica, Child Health, Genetica Groep Koeleman, Cancer +11 morecore +9 more sourcesGenetic mechanisms in generalized epilepsies
Acta Epileptologica, 2023 AbstractThe genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number variations which can ...Xiaoqian Wang, Xueyi Rao, Jia Zhang, Jing Gan +3 moreopenaire +3 more sourcesGenetic generalized epilepsies [PDF]
Epilepsia, 2018 SummaryThe genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal‐dominant GLUT1 deficiency account for up to 1% of cases, increasing to Mullen, Saul A., Berkovic, Samuel F., De Jonghe, Peter, et al. +3 moreopenaire +4 more sources
