308 results on '"Weber, Yvonne G."'
Search Results
2. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
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Collaborative, Epi25, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther MC, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, and Schreiber, Herbert
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Clinical Research ,Human Genome ,Neurosciences ,Epilepsy ,Biotechnology ,Genetics ,Neurodegenerative ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Case-Control Studies ,DNA Mutational Analysis ,Exome ,Genetic Markers ,Genetic Predisposition to Disease ,Genetic Variation ,Humans ,Phenotype ,Exome Sequencing ,Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au ,Epi25 Collaborative ,burden analysis ,epilepsy ,epileptic encephalopathy ,exome ,seizures ,sequencing ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.
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- 2019
3. Defining the phenotypic spectrum of SLC6A1 mutations
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Johannesen, Katrine M, Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Martin, Anne Saint, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J Lawrence, Rodan, Lance H, Tan, Wen‐Hann, Bird, Lynne M, Nespeca, Mark, Gleeson, Joseph G, Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S, Schelhaas, Helenius J, Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G, Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E, Pisani, Laura, Myers, Candace T, Tang, Sha, Tang, Shan, Pal, Deb K, Millichap, John J, Carvill, Gemma L, Helbig, Kathrine L, Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C, and Møller, Rikke S
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Behavioral and Social Science ,Neurodegenerative ,Neurosciences ,Genetics ,Epilepsy ,Clinical Research ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Adolescent ,Adult ,Anticonvulsants ,Ataxia ,Child ,Child ,Preschool ,Cohort Studies ,Electroencephalography ,Epilepsies ,Myoclonic ,Epilepsies ,Partial ,Epilepsy ,Generalized ,Female ,GABA Plasma Membrane Transport Proteins ,Genetic Association Studies ,Humans ,Intellectual Disability ,Language Development Disorders ,Male ,Mutation ,Mutation ,Missense ,Neurodevelopmental Disorders ,Phenotype ,Treatment Outcome ,Valproic Acid ,Young Adult ,epilepsy ,epilepsy genetics ,MAE ,SLC6A1 ,MAE ,SLC6A1 ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.MethodsWe collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.ResultsCognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).SignificanceMost patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.
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- 2018
4. Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy
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Scherer, Maximillian, Milosevic, Luka, Guggenberger, Robert, Maus, Volker, Naros, Georgios, Grimm, Florian, Bucurenciu, Iancu, Steinhoff, Bernhard J., Weber, Yvonne G., Lerche, Holger, Weiss, Daniel, Rona, Sabine, and Gharabaghi, Alireza
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- 2020
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5. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
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Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, Richard, Liu, Shuxi, and Weiss, Marjan
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- 2020
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6. Long-term human organotypic brain slice cultures: a detailed protocol to provide a comprehensive framework for single-neuron and neuronal network investigations
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Bak, Aniella, primary, Koch, Henner, additional, van Loo, Karen M.J., additional, Schmied, Katharina, additional, Gittel, Birgit, additional, Weber, Yvonne G., additional, Schwarz, Niklas, additional, Tauber, Simone C, additional, Wuttke, Thomas V., additional, and Delev, Daniel, additional
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- 2023
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7. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
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Heyne, Henrike O., Artomov, Mykyta, Battke, Florian, Bianchini, Claudia, Smith, Douglas R., Liebmann, Nora, Tadigotla, Vasisht, Stanley, Christine M., Lal, Dennis, Rehm, Heidi, Lerche, Holger, Daly, Mark J., Helbig, Ingo, Biskup, Saskia, Weber, Yvonne G., and Lemke, Johannes R.
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- 2019
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8. Assessment of genetic variant burden in epilepsy-associated brain lesions
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Niestroj, Lisa-Marie, May, Patrick, Artomov, Mykyta, Kobow, Katja, Coras, Roland, Pérez-Palma, Eduardo, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin, Beschorner, Rudi, Weber, Yvonne G., Blümcke, Ingmar, and Lal, Dennis
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- 2019
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9. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
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May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, De Jonghe, Peter, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Arfan Ikram, M, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, Ferlazzo, Edoardo, di Bonaventura, Carlo, La Neve, Angela, Tinuper, Paolo, Bisulli, Francesca, Vignoli, Aglaia, Capovilla, Giuseppe, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Langley, Sarah R, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah, Hengsbach, Christian, Sonsma, Anja C.M., Jonghe, Peter De, and Ikram, M Arfan
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- 2018
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10. Development of a rapid functional assay that predicts GLUT1 disease severity
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Zaman, Sasha M., Mullen, Saul A., Petrovski, Slavé, Maljevic, Snezana, Gazina, Elena V., Phillips, A. Marie, Jones, Gabriel Davis, Hildebrand, Michael S., Damiano, John, Auvin, Stéphane, Lerche, Holger, Weber, Yvonne G., Berkovic, Samuel F., Scheffer, Ingrid E., Reid, Christopher A., and Petrou, Steven
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- 2018
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11. De novo variants in neurodevelopmental disorders with epilepsy
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Heyne, Henrike O., Singh, Tarjinder, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick, Muhle, Hiltrud, Møller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale, Tang, Sha, Wu, Sitao, EuroEPINOMICS RES Consortium, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis, and Lemke, Johannes R.
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- 2018
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12. Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview
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Fischer, Florian P., primary, Karge, Robin A., additional, Weber, Yvonne G., additional, Koch, Henner, additional, Wolking, Stefan, additional, and Voigt, Aaron, additional
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- 2023
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13. A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation
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Boon, Paul, Vonck, Kristl, van Rijckevorsel, Kenou, Tahry, Riem El, Elger, Christian E., Mullatti, Nandini, Schulze-Bonhage, Andreas, Wagner, Louis, Diehl, Beate, Hamer, Hajo, Reuber, Markus, Kostov, Hrisimir, Legros, Benjamin, Noachtar, Soheyl, Weber, Yvonne G., Coenen, Volker A., Rooijakkers, Herbert, Schijns, Olaf E.M.G., Selway, Richard, Van Roost, Dirk, Eggleston, Katherine S., Van Grunderbeek, Wim, Jayewardene, Amara K., and McGuire, Ryan M.
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- 2015
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14. Clinical spectrum of STX1B-related epileptic disorders
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Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, and Schubert, Julian
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- 2019
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15. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
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Krüger, Johanna, primary, Schubert, Julian, additional, Kegele, Josua, additional, Labalme, Audrey, additional, Mao, Miaomiao, additional, Heighway, Jacqueline, additional, Seebohm, Guiscard, additional, Yan, Pu, additional, Koko, Mahmoud, additional, Aslan-Kara, Kezban, additional, Caglayan, Hande, additional, Steinhoff, Bernhard J., additional, Weber, Yvonne G., additional, Keo-Kosal, Pascale, additional, Berkovic, Samuel F., additional, Hildebrand, Michael S., additional, Petrou, Steven, additional, Krause, Roland, additional, May, Patrick, additional, Lesca, Gaetan, additional, Maljevic, Snezana, additional, and Lerche, Holger, additional
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- 2022
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16. Wearables for gait and balance assessment in the neurological ward - study design and first results of a prospective cross-sectional feasibility study with 384 inpatients
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Bernhard, Felix P., Sartor, Jennifer, Bettecken, Kristina, Hobert, Markus A., Arnold, Carina, Weber, Yvonne G., Poli, Sven, Margraf, Nils G., Schlenstedt, Christian, Hansen, Clint, and Maetzler, Walter
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- 2018
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17. Genetik epileptischer Enzephalopathien
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Wolking, Stefan, von Spiczak, Sarah, and Weber, Yvonne G.
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- 2016
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18. Relevante genetische Befunde für die Praxis
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Kegele, Josua and Weber, Yvonne G.
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- 2016
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19. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
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Krüger, Johanna, Schubert, Julian, Kegele, Josua, Labalme, Audrey, Mao, Miaomiao, Heighway, Jacqueline, Seebohm, Guiscard, Yan, Pu, Koko, Mahmoud, Aslan-Kara, Kezban, Caglayan, Hande, Steinhoff, Bernhard J., Weber, Yvonne G., Keo-Kosal, Pascale, Berkovic, Samuel F., Hildebrand, Michael S., Petrou, Steven, Krause, Roland, May, Patrick, Lesca, Gaetan, Maljevic, Snezana, Lerche, Holger, FNR, DFG [sponsor], and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
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Exome sequencing ,Mammals ,Neurologie [D14] [Sciences de la santé humaine] ,Epilepsy ,Neurology [D14] [Human health sciences] ,Loss-of-function ,Genetic generalized epilepsy ,Intellectual Disability ,Mutation ,Animals ,Humans ,Epilepsy, Generalized ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] ,Patch-clamp ,Phospholipids - Abstract
EBioMedicine 84, 104244 (2022). doi:10.1016/j.ebiom.2022.104244, Published by Elsevier, Amsterdam [u.a.]
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- 2022
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20. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
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Pérez-Palma, Eduardo, Helbig, Ingo, Klein, Karl Martin, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig, Ganna, Andrea, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R, Saarentaus, Elmo, Howrigan, Daniel P, Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Neubauer, Bern A, Becker, Albert J, Rosenow, Felix, Perucca, Emilio, Zara, Federico, Weber, Yvonne G, and Lal, Dennis
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- 2017
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21. Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature
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Wolking, Stefan, Becker, Felicitas, Bast, Thomas, Wiemer-Kruel, Adelheid, Mayer, Thomas, Lerche, Holger, and Weber, Yvonne G.
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- 2014
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22. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder
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Seiffert, Simone, primary, Pendziwiat, Manuela, additional, Bierhals, Tatjana, additional, Goel, Himanshu, additional, Schwarz, Niklas, additional, van der Ven, Amelie, additional, Boßelmann, Christian Malte, additional, Willemsen, Marjolein H., additional, Hedrich, Ulrike B.S., additional, Helbig, Ingo, additional, and Weber, Yvonne G., additional
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- 2021
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23. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
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Motelow, Joshua E., primary, Povysil, Gundula, additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Allen, Andrew S., additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Cusick, Caroline, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea E., additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Gupta, Namrata, additional, Neale, Benjamin M., additional, Cavalleri, Gianpiero L., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Hakonarson, Hakon, additional, Heinzen, Erin L., additional, Helbig, Ingo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Stewart, Randy, additional, Weckhuysen, Sarah, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, Krause, Roland, additional, May, Patrick, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bennett, Caitlin A., additional, Leu, Costin, additional, Leech, Stephanie L., additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Ali, Quratulain Zulfiqar, additional, Sadoway, Tara R., additional, Krestel, Heinz, additional, Schaller, André, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Christou, Yiolanda, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Neubauer, Bernd A., additional, Zimprich, Friedrich, additional, Feucht, Martha, additional, Reinthaler, Eva M., additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Surges, Rainer, additional, Baumgartner, Tobias, additional, von Wrede, Randi, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Lauxmann, Stephan, additional, Boßelmann, Christian, additional, Kegele, Josua, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Wolff, Markus, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Saarela, Anni, additional, Timonen, Oskari, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rheims, Sylvain, additional, Lesca, Gaetan, additional, Ryvlin, Philippe, additional, Maillard, Louis, additional, Valton, Luc, additional, Derambure, Philippe, additional, Bartolomei, Fabrice, additional, Hirsch, Edouard, additional, Michel, Véronique, additional, Chassoux, Francine, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Baker, Mark D., additional, Fonferko-Shadrach, Beata, additional, Lawthom, Charlotte, additional, Anderson, Joseph, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, El-Naggar, Hany, additional, Widdess-Walsh, Peter, additional, Barišić, Nina, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Ragona, Francesca, additional, Zara, Federico, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Salpietro, Vincenzo, additional, Scala, Marcello, additional, Mancardi, Maria Margherita, additional, Nobili, Lino, additional, Amadori, Elisabetta, additional, Giacomini, Thea, additional, Bisulli, Francesca, additional, Pippucci, Tommaso, additional, Licchetta, Laura, additional, Minardi, Raffaella, additional, Tinuper, Paolo, additional, Muccioli, Lorenzo, additional, Mostacci, Barbara, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Barba, Carmen, additional, Hirose, Shinichi, additional, Ishii, Atsushi, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Beydoun, Ahmad, additional, Nasreddine, Wassim, additional, Khoueiry Zgheib, Nathalie, additional, Tumiene, Birute, additional, Utkus, Algirdas, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Yis, Uluc, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Tsai, Meng-Han, additional, Ho, Chen-Jui, additional, Lin, Chih-Hsiang, additional, Lin, Kuang-Lin, additional, Chou, I-Jun, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Noebels, Jeffrey L., additional, Goldman, Alicia, additional, Busch, Robyn M., additional, Jehi, Lara, additional, Najm, Imad M., additional, Ferguson, Lisa, additional, Khoury, Jean, additional, Glauser, Tracy A., additional, Clark, Peggy O., additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Greenberg, David A., additional, Ellis, Colin A., additional, Goldberg, Ethan, additional, Helbig, Katherine L., additional, Cosico, Mahgenn, additional, Vaidiswaran, Priya, additional, Fitch, Eryn, additional, Berkovic, Samuel F., additional, Lerche, Holger, additional, Lowenstein, Daniel H., additional, and Goldstein, David B., additional
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- 2021
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24. Distinct gene-set burden patterns underlie common generalized and focal epilepsies
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Koko, Mahmoud, primary, Krause, Roland, additional, Sander, Thomas, additional, Bobbili, Dheeraj Reddy, additional, Nothnagel, Michael, additional, May, Patrick, additional, Lerche, Holger, additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P, additional, Abbott, Liam E, additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea, additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Heinzen, Erin L, additional, Dhindsa, Ryan S, additional, Stanley, Kate E, additional, Cavalleri, Gianpiero L, additional, Hakonarson, Hakon, additional, Helbig, Ingo, additional, Weckhuysen, Sarah, additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M, additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, DeJonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Kwan, Patrick, additional, Marson, Anthony G, additional, Stewart, Randy, additional, Depondt, Chantal, additional, Dlugos, Dennis J, additional, Scheffer, Ingrid E, additional, Striano, Pasquale, additional, Freyer, Catharine, additional, McKenna, Kevin, additional, Regan, Brigid M, additional, Bellows, Susannah T, additional, Leu, Costin, additional, Bennett, Caitlin A, additional, Johns, Esther M C, additional, Macdonald, Alexandra, additional, Shilling, Hannah, additional, Burgess, Rosemary, additional, Weckhuysen, Dorien, additional, Bahlo, Melanie, additional, O'Brien, Terence J, additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M, additional, Sadoway, Tara R, additional, Mo, Kelly, additional, Krestel, Heinz, additional, Gallati, Sabina, additional, Papacostas, Savvas S, additional, Kousiappa, Ioanna, additional, Tanteles, George A, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S, additional, Knake, Susanne, additional, Kunz, Wolfram S, additional, Zsurka, Gábor, additional, Elger, Christian E, additional, Bauer, Jürgen, additional, Rademacher, Michael, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, vanBaalen, Andreas, additional, vonSpiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D, additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R, additional, Krey, Ilona, additional, Weber, Yvonne G, additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Maisch, Ana F, additional, Steinhoff, Bernhard J, additional, Schulze-Bonhage, Andreas, additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Borggräfe, Ingo, additional, Schankin, Christoph J, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Auvinen, Pia, additional, Saarela, Anni, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rees, Mark I, additional, Chung, Seo-Kyung, additional, Pickrell, William O, additional, Powell, Robert, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R, additional, Auce, Pauls, additional, Sills, Graeme J, additional, Baum, Larry W, additional, Sham, Pak C, additional, Cherny, Stacey S, additional, Lui, Colin H T, additional, Barišić, Nina, additional, Delanty, Norman, additional, Doherty, Colin P, additional, Shukralla, Arif, additional, McCormack, Mark, additional, El-Naggar, Hany, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Zara, Federico, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Mancardi, Maria Margherita, additional, Salpietro, Vincenzo, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, Pippucci, Tommaso, additional, Stipa, Carlotta, additional, Minardi, Raffaella, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Marini, Carla, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Tumiene, Birute, additional, Sadleir, Lynette G, additional, King, Chontelle, additional, Mountier, Emily, additional, Caglayan, Hande S, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Yis, Uluc, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Poduri, Annapurna, additional, Shiedley, Beth R, additional, Shain, Catherine, additional, Buono, Russell J, additional, Ferraro, Thomas N, additional, Sperling, Michael R, additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A, additional, Schachter, Steven, additional, Kuzniecky, Ruben I, additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Khankhanian, Pouya, additional, Helbig, Katherine L, additional, Ellis, Colin A, additional, Spalletta, Gianfranco, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Gili, Tommaso, additional, Ciullo, Valentina, additional, Reif, Andreas, additional, McQuillin, Andrew, additional, Bass, Nick, additional, McIntosh, Andrew, additional, Blackwood, Douglas, additional, Johnstone, Mandy, additional, Palotie, Aarno, additional, Pato, Michele T, additional, Pato, Carlos N, additional, Bromet, Evelyn J, additional, Carvalho, Celia Barreto, additional, Achtyes, Eric D, additional, Azevedo, Maria Helena, additional, Kotov, Roman, additional, Lehrer, Douglas S, additional, Malaspina, Dolores, additional, Marder, Stephen R, additional, Medeiros, Helena, additional, Morley, Christopher P, additional, Perkins, Diana O, additional, Sobell, Janet L, additional, Buckley, Peter F, additional, Macciardi, Fabio, additional, Rapaport, Mark H, additional, Knowles, James A, additional, Cohort, Genomic Psychiatry, additional, Fanous, Ayman H, additional, McCarroll, Steven A, additional, Gupta, Namrata, additional, Gabriel, Stacey B, additional, Daly, Mark J, additional, Lander, Eric S, additional, Lowenstein, Daniel H, additional, Goldstein, David B, additional, Berkovic, Samuel F, additional, and Neale, Benjamin M, additional
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- 2021
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25. Genetic Biomarkers in Epilepsy
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Weber, Yvonne G., Nies, Anne T., Schwab, Matthias, and Lerche, Holger
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- 2014
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26. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
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Gardella, Elena, Becker, Felicitas, Mller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Mller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, and Weber, Yvonne G.
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- 2016
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27. Loss of function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
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Krueger, Johanna, Schubert, Julian, Kegele, Josua, Labalme, Audrey, Mao, Miaomiao, Heighway, Jaqueline, Seebohm, Guiscard, Yan, Pu, Koko, Mahmoud, Aslan, Kezban, Caglayan, Hande, Steinhoff, Bernhard J., Weber, Yvonne G., Keo-Kosal, Pascale, Berkovic, Samuel F., Hildebrand, Michael S., Petrou, Steven, Krause, Roland, May, Patrick, Lesca, Gaetan, Maljevic, Snezana, Lerche, Holger, EUROEPINOMICS CoGIE, FNR, DFB, BMBF [sponsor], and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
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epilepsy ,GGE ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] ,KCNQ5 - Abstract
Objective: De novo missense variants in KCNQ5, encoding the voltage gated K+ channel KV7.5, have been described as a cause of developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 variants in genetic generalized epilepsy (GGE) and their underlying mechanisms. Methods: 1292 families with GGE were studied by next-generation sequencing. Whole-cell patch-clamp recordings, biotinylation and phospholipid overlay assays were performed in mammalian cells combined with docking and homology modeling. Results: We identified three deleterious heterozygous missense variants, one truncation and one splice site alteration in five independent families with GGE with predominant absence seizures, two variants were also associated with mild to moderate ID. All three missense variants displayed a strongly decreased current density indicating a loss-of-function (LOF). When mutant channels were co-expressed with wild-type (WT) KV7.5 or KV7.5 and KV7.3 channels, three variants also revealed a significant dominant-negative effect on WT channels. Other gating parameters were unchanged. Biotinylation assays indicated a normal surface expression of the variants. The p.Arg359Cys variant altered PI(4,5)P2-interaction, presumably in the non-conducting preopen-closed state. Interpretation: Our study indicates that specific deleterious KCNQ5 variants are associated with GGE, partially combined with mild to moderate ID. The disease mechanism is a LOF partially with dominant-negative effects through functional, rather than trafficking deficits. LOF of KV7.5 channels will reduce the M-current, likely resulting in increased excitability of KV7.5-expressing neurons. Further studies on a network level are necessary to understand which circuits are affected and how the variants induce generalized seizures.
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- 2021
28. Postictal Psychosis in Epilepsy: A Clinicogenetic Study
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Braatz, Vera, primary, Martins Custodio, Helena, additional, Leu, Costin, additional, Agrò, Luigi, additional, Wang, Baihan, additional, Calafato, Stella, additional, Rayner, Genevieve, additional, Doyle, Michael G., additional, Hengsbach, Christian, additional, Bisulli, Francesca, additional, Weber, Yvonne G., additional, Gambardella, Antonio, additional, Delanty, Norman, additional, Cavalleri, Gianpiero, additional, Foong, Jacqueline, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Bramon, Elvira, additional, Balestrini, Simona, additional, and Sisodiya, Sanjay M., additional
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- 2021
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29. Changes in drug load during lacosamide combination therapy: A noninterventional, observational study in German and Austrian clinical practice
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Reinhardt, Fritjof, Weber, Yvonne G., Mayer, Thomas, Luef, Gerhard, Joeres, Lars, Tennigkeit, Frank, Dedeken, Peter, De Backer, Marc, Hellot, Scarlett, Lauterbach, Thomas, Webers, Tanja, Arnold, Stephan, Asenbaum‐Nan, Susanne, Behrens, Stephan, Bethke, Florian, Bös, Monika, Bongartz, Ulrike, Christopher, Angelika, Geber, Christian, Halbgewachs, Frank, Hamer, Hajo, Hoffman, Frank, Hufnagel, Andreas, Kastrup, Oliver, Kellinghaus, Christoph, Klyk, Irene, Kowalik, Andreas, Kühn, Frank, Kukowski, Borries, Kunze, Albrecht, Lang, Michael, Lang, Nicolas, Losch, Florian‐Philip, Niedermüller, Ulrike, Nitsche, Michael, Rademacher, Michael, Reimann, Gernot, Ries, Stefan, Scheid, Brigitte, Schmitt, Friedhelm, Schmitz, Bettina, Scholz, Erich, Schwarz, Johannes, Springub, Joachim, Steinhoff, Bernhard, Tröger, Jens, Weißinger, Florian, Wirbatz, Angelika, and Wohlfarth, Kai
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Drug ,Lacosamide ,Combination therapy ,business.industry ,media_common.quotation_subject ,sodium channel blocker ,seizure frequency ,lcsh:RC346-429 ,Discontinuation ,combination therapy ,Sodium channel blocker ,Defined daily dose ,antiepileptic drug ,Neurology ,Anesthesia ,Concomitant ,Full‐length Original Research ,Medicine ,Observational study ,Neurology (clinical) ,drug load ,business ,lcsh:Neurology. Diseases of the nervous system ,medicine.drug ,media_common - Abstract
Introduction Effects of antiepileptic drug (AED) load changes in patients with focal seizures have not been well evaluated. Methods SP1065 (NCT01673282) was a noninterventional, prospective, observational study conducted in a clinical practice setting. Patients (aged ≥18 years) with focal seizures were enrolled within 7 days of being prescribed adjunctive lacosamide. Observation period was ~6 months. Drug load was assessed using percentage change in ratio of actual prescribed dose and World Health Organization defined daily dose (DDD) for concomitant AEDs and all AEDs (including lacosamide). Subgroups were defined for patients with at least one concomitant sodium channel–blocking AED (SCB [+]) and those without (SCB [−]). Results A total of 311 patients were assessed for safety, 302 for measurement of drug load, and 240 for effectiveness. Ratio of AED dose to DDD decreased for concomitant AEDs (−9.6%) and increased for all AEDs (including lacosamide; 15.5%). Median reduction in focal seizure frequency per 28 days was 100% (range: −100, 2275.8). 70.4% and 61.7% of patients had a ≥50% or ≥75% reduction in seizure frequency, respectively; 50.8% became seizure‐free. In the SCB (+) subgroup (n = 149), ratio of AED dose to DDD decreased for concomitant AEDs (−15.0%) and increased for all AEDs (10.7%). In the SCB (−) subgroup (n = 153), ratio of AED dose to DDD decreased for concomitant AEDs (−4.4%) and increased for all AEDs (20.2%). Fifty‐seven patients (18.3%) reported ADRs, most commonly dose >400 mg/d (7.1%). Seventeen patients (5.5%) had ADRs leading to discontinuation. Significance Addition of lacosamide resulted in reduction of concomitant AED drug load regardless of whether concomitant AEDs were SCB (+) or SCB (−). These results indicate that addition of lacosamide in patients with focal seizures could allow clinicians to withdraw or reduce the dose of less well‐tolerated or less effective AEDs.
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- 2019
30. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy
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Lal, Dennis, Pernhorst, Katharina, Klein, Karl Martin, Reif, Philipp, Tozzi, Rossana, Toliat, Mohammad R., Winterer, Georg, Neubauer, Bernd, Nürnberg, Peter, Rosenow, Felix, Becker, Felicitas, Lerche, Holger, Kunz, Wolfram S., Kurki, Mitja I., Hoffmann, Per, Becker, Albert J., Perucca, Emilio, Zara, Federico, Sander, Thomas, and Weber, Yvonne G.
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- 2015
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31. SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG
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von Stülpnagel, Celina, Funke, Claudia, Haberl, Caroline, Hörtnagel, Konstanze, Jüngling, Jerome, Weber, Yvonne G., Staudt, Martin, and Kluger, Gerhard
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- 2015
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32. PRRT2-related disorders: further PKD and ICCA cases and review of the literature
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Becker, Felicitas, Schubert, Julian, Striano, Pasquale, Anttonen, Anna-Kaisa, Liukkonen, Elina, Gaily, Eija, Gerloff, Christian, Müller, Stephan, Heußinger, Nicole, Kellinghaus, Christoph, Robbiano, Angela, Polvi, Anne, Zittel, Simone, von Oertzen, Tim J., Rostasy, Kevin, Schöls, Ludger, Warner, Tom, Münchau, Alexander, Lehesjoki, Anna-Elina, Zara, Federico, Lerche, Holger, and Weber, Yvonne G.
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- 2013
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33. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
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Balestrini, Simona, primary, Chiarello, Daniela, additional, Gogou, Maria, additional, Silvennoinen, Katri, additional, Puvirajasinghe, Clinda, additional, Jones, Wendy D, additional, Reif, Philipp, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Weber, Yvonne G, additional, Lerche, Holger, additional, Schubert-Bast, Susanne, additional, Borggraefe, Ingo, additional, Coppola, Antonietta, additional, Troisi, Serena, additional, Møller, Rikke S, additional, Riva, Antonella, additional, Striano, Pasquale, additional, Zara, Federico, additional, Hemingway, Cheryl, additional, Marini, Carla, additional, Rosati, Anna, additional, Mei, Davide, additional, Montomoli, Martino, additional, Guerrini, Renzo, additional, Cross, J Helen, additional, and Sisodiya, Sanjay M, additional
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- 2021
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34. Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
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Krüger, Johanna, primary, Schubert, Julian, additional, Kegele, Josua, additional, Labalme, Audrey, additional, Mao, Miaomiao, additional, Heighway, Jacqueline, additional, Seebohm, Guiscard, additional, Yan, Pu, additional, Koko, Mahmoud, additional, Aslan, Kezban, additional, Caglayan, Hande, additional, Steinhoff, Bernhard J., additional, Weber, Yvonne G., additional, Keo-Kosal, Pascale, additional, Berkovic, Samuel F., additional, Hildebrand, Michael S., additional, Petrou, Steven, additional, Krause, Roland, additional, May, Patrick, additional, Lesca, Gaetan, additional, Maljevic, Snezana, additional, and Lerche, Holger, additional
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- 2021
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35. Unverricht-Lundborg Disease
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Weber, Yvonne G., Serratosa, Jose M., Lehesjoki, Anna-Elina, and Lang, Florian, editor
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- 2009
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36. Genetics of paroxysmal dyskinesias
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Weber, Yvonne G. and Lerche, Holger
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- 2009
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37. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
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Weber, Yvonne G., Storch, Alexander, Wuttke, Thomas V., Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A., Huber, Stephan M., Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M., Munchau, Alexander, Edwards, Mark J., Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P., Lehmann-Horn, Frank, and Lerche, Holger
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Hemolytic anemia -- Risk factors ,Hemolytic anemia -- Diagnosis ,Gene mutations -- Research ,Movement disorders -- Risk factors ,Movement disorders -- Diagnosis ,Movement disorders -- Care and treatment - Abstract
Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1., Introduction Paroxysmal dyskinesias (PDs) are characterized by involuntary movements triggered by certain stimuli such as sudden movement or prolonged exercise. They are classified into paroxysmal kinesigenic dyskinesia (PKD or PKC [...]
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- 2008
38. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
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Tang, Shan, Addis, Laura, Smith, Anna, Topp, Simon D., Pendziwiat, Manuela, Mei, Davide, Parker, Alasdair, Agrawal, Shakti, Hughes, Elaine, Lascelles, Karine, Williams, Ruth E., Fallon, Penny, Robinson, Robert, Cross, Helen J., Hedderly, Tammy, Eltze, Christin, Kerr, Tim, Desurkar, Archana, Hussain, Nahin, Kinali, Maria, Bagnasco, Irene, Vassallo, Grace, Whitehouse, William, Goyal, Sushma, Absoud, Michael, Møller, Rikke S., Helbig, Ingo, Weber, Yvonne G., Marini, Carla, Guerrini, Renzo, Simpson, Michael A., Pal, Deb K., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Lehesjoki, Anna‐Elina, Muhle, Hiltrud, Neubauer, Bernd, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Caglayan, Hande, Hoffman‐Zacharska, Dorota, Department of Medical and Clinical Genetics, Neuroscience Center, University of Helsinki, and EuroEPINOMICS-RES Consortium
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Male ,0301 basic medicine ,Pediatrics ,INTELLECTUAL DISABILITY ,PROGNOSIS ,Autism Spectrum Disorder ,PROTEIN ,Epilepsies, Myoclonic ,VARIANTS ,epilepsy/seizures ,3124 Neurology and psychiatry ,Epilepsy ,myoclonic astatic epilepsy ,0302 clinical medicine ,OF-FUNCTION MUTATIONS ,genetics ,Age of Onset ,Child ,Exome ,Doose syndrome ,seizures ,FEBRILE SEIZURES ,Seizure types ,Electroencephalography ,3. Good health ,Phenotype ,Neurology ,Autism spectrum disorder ,Child, Preschool ,Epilepsy, Generalized ,Female ,medicine.medical_specialty ,GENERALIZED EPILEPSY ,Neuroimaging ,03 medical and health sciences ,Exome Sequencing ,medicine ,Myoclonic atonic seizures ,Humans ,Generalized epilepsy ,AUTISM ,ASTATIC EPILEPSY ,business.industry ,3112 Neurosciences ,Infant ,medicine.disease ,030104 developmental biology ,Myoclonic astatic epilepsy ,Attention Deficit Disorder with Hyperactivity ,DE-NOVO MUTATIONS ,Autism ,epilepsy ,Human medicine ,Neurology (clinical) ,3111 Biomedicine ,business ,030217 neurology & neurosurgery - Abstract
OBJECTIVE: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).METHODS: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies.RESULTS: We analyzed 101 patients with MAE (70% male). The median age of seizure onset was 34 months (range = 6-72 months). The main seizure types were myoclonic atonic or atonic in 100%, generalized tonic-clonic in 72%, myoclonic in 69%, absence in 60%, and tonic seizures in 19% of patients. We observed intellectual disability in 62% of patients, with extremely low adaptive behavioral scores in 69%. In addition, 24% exhibited symptoms of autism and 37% exhibited attention-deficit/hyperactivity symptoms. We discovered pathogenic variants in 12 (14%) of 85 patients, including five previously published patients. These were pathogenic genetic variants in SYNGAP1 (n = 3), KIAA2022 (n = 2), and SLC6A1 (n = 2), as well as KCNA2, SCN2A, STX1B, KCNB1, and MECP2 (n = 1 each). We also identified three new candidate genes, ASH1L, CHD4, and SMARCA2 in one patient each.SIGNIFICANCE: MAE is associated with significant neurodevelopmental impairment. MAE is genetically heterogeneous, and we identified a pathogenic genetic etiology in 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestation of several etiologies rather than a discrete syndromic entity.
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- 2020
39. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects
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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, Feng, Yen-Chen Anne, Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Churchhouse, Claire, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Goldstein, David B., Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Weckhuysen, Sarah, Stamberger, Hannah, De Jonghe, Peter, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Šterbová, Katalin, Vlcková, Markéta, Sedlácková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišic, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Muccioli, Lorenzo, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Mameniskiene, Ruta, Utkus, Algirdas, Praninskiene, Ruta, Grikiniene, Jurgita, Samaitiene, Ruta, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapici, Zuhal, Yis, Uluc, Topaloglu, Pinar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Asli, Bebek, Nerses, Ugur-Iseri, Sibel, Baykan, Betül, Salman, Baris, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yesim, Özkara, Çigdem, Sheidley, Beth R., Shain, Catherine, Poduri, Annapurna, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, YÜCESAN, EMRAH, Niestroj L.-M., Perez-Palma E., Howrigan D.P., Zhou Y., Cheng F., Saarentaus E., Nurnberg P., Stevelink R., Daly M.J., Palotie A., Lal D, Epi 25 Collaborative, Bisulli F., Tinuper P., Licchetta L., and Epi25 Collaborative
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Developmental and epileptic encephalopathy ,Male ,0301 basic medicine ,DNA Copy Number Variations ,Disease ,Bioinformatics ,Genome ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,copy number variation ,developmental and epileptic encephalopathy ,epilepsy ,focal epilepsy ,genetic generalized epilepsy ,medicine ,Humans ,Genetic Predisposition to Disease ,Copy-number variation ,Generalized epilepsy ,DNA Copy Number Variation ,Copy number variation ,business.industry ,Breakpoint ,Focal epilepsy ,Original Articles ,medicine.disease ,3. Good health ,Genetic generalized epilepsy ,030104 developmental biology ,Female ,Human medicine ,Neurology (clinical) ,Personalized medicine ,business ,030217 neurology & neurosurgery ,Genome-Wide Association Study ,Human - Abstract
Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls. Patients with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephalopathy were included. All samples were processed with the same technology and analysis pipeline. All investigated epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burden in at least one tested category compared to controls. However, we observed striking differences in CNV burden across epilepsy types and investigated CNV categories. Genetic generalized epilepsy patients have the highest CNV burden in all categories tested, followed by developmental and epileptic encephalopathy patients. Both epilepsy types also show association for deletions covering genes intolerant for truncating variants. Genome-wide CNV breakpoint association showed not only significant loci for genetic generalized and developmental and epileptic encephalopathy patients but also for lesional focal epilepsy patients. With a 34-fold risk for developing genetic generalized epilepsy, we show for the first time that the established epilepsy-associated 15q13.3 deletion represents the strongest risk CNV for genetic generalized epilepsy across the whole genome. Using the human interactome, we examined the largest connected component of the genes overlapped by CNVs in the four epilepsy types. We observed that genetic generalized epilepsy and non-acquired focal epilepsy formed disease modules. In summary, we show that in all common epilepsy types, 1.5–3% of patients carry epilepsy-associated CNVs. The characteristics of risk CNVs vary tremendously across and within epilepsy types. Thus, we advocate genome-wide genomic testing to identify all disease-associated types of CNVs.
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- 2020
40. Additional file 1 of Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
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Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Møller, Rikke S., Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, Jonghe, Peter De, Guerrini, Renzo, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Padhraig Gormley, Tang, Sha, Sitao Wu, Biskup, Saskia, Annapurna Poduri, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno, and Daly, Mark J.
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ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,ComputingMilieux_COMPUTERSANDEDUCATION ,Data_FILES ,ComputerApplications_COMPUTERSINOTHERSYSTEMS - Abstract
Additional file 1: Supplementary methods, figures, and table.
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- 2020
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41. Epileptic nystagmus: two case reports, clinical and pathophysiological review of the literature
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Weber, Yvonne G., Roesche, Johannes, and Lerche, Holger
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Eye -- Medical examination ,Nystagmus -- Case studies ,Health - Published
- 2006
42. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
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Mller, Rikke S., Weber, Yvonne G., Klitten, Laura L., Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S., Mefford, Heather C., Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Stefan, Rückert, Ina-Maria, Wichmann, H.-Erich, Ernst, Jan P., Schurmann, Claudia, Grabe, Hans J., Tommerup, Niels, Stephani, Ulrich, Lerche, Holger, Hjalgrim, Helle, Helbig, Ingo, and Sander, Thomas
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- 2013
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43. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
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Lal, Dennis, Trucks, Holger, Mller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., de Kovel, Carolien G. F., Visscher, Frank, Weber, Yvonne G., Lerche, Holger, Becker, Felicitas, Schankin, Christoph J., Neubauer, Bernd A., Surges, Rainer, Kunz, Wolfram S., Zimprich, Fritz, Franke, Andre, Illig, Thomas, Ried, Janina S., Leu, Costin, Nürnberg, Peter, and Sander, Thomas
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- 2013
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44. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
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Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Federico, Striano, Pasquale, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G.F., Kasteleijn-Nolst Trenité, Dorothée, de Haan, Gerrit-Jan, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefu-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Guerrero, Rosa, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Mörzinger, Martina, Feucht, Martha, Zimprich, Fritz, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Gieger, Christian, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David, Franke, Andre, Meesters, Christian, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., and Sander, Thomas
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- 2012
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45. PRRT2 Mutations are the major cause of benign familial infantile seizures
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Schubert, Julian, Paravidino, Roberta, Becker, Felicitas, Berger, Andrea, Bebek, Nerses, Bianchi, Amedeo, Brockmann, Knut, Capovilla, Giuseppe, Dalla Bernardina, Bernardo, Fukuyama, Yukio, Hoffmann, Georg F., Jurkat-Rott, Karin, Anttonen, Anna-Kaisa, Kurlemann, Gerhard, Lehesjoki, Anna-Elina, Lehmann-Horn, Frank, Mastrangelo, Massimo, Mause, Ulrike, Müller, Stephan, Neubauer, Bernd, Püst, Burkhard, Rating, Dietz, Robbiano, Angela, Ruf, Susanne, Schroeder, Christopher, Seidel, Andreas, Specchio, Nicola, Stephani, Ulrich, Striano, Pasquale, Teichler, Jens, Turkdogan, Dilsad, Vigevano, Federico, Viri, Maurizio, Bauer, Peter, Zara, Federico, Lerche, Holger, and Weber, Yvonne G.
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- 2012
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46. Urolithiasis, Uric Acid
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Rappold, Gudrun, primary, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Weber, Yvonne G., additional, Serratosa, Jose M., additional, Lehesjoki, Anna-Elina, additional, Baumer, Alessandra, additional, Kuilenburg, André B. P., additional, Gennip*, Albert H., additional, Rees, David C., additional, Fairbanks, Lynette D., additional, Simmonds, H. Anne, additional, Hesse, Albrecht, additional, Zimmermann, Diana J., additional, Von Unruh, Gerd E., additional, Hoppe, Bernd, additional, Siener, Roswitha, additional, Maalouf, Naim M., additional, Cameron, MaryAnn, additional, Sakhaee, Khashayar, additional, Leung, Alexander K. C., additional, Kupka, Susan, additional, Pfister, Markus, additional, Bechrakis, Nikolaos E., additional, Kaplan, Henry J., additional, Shao, Hui, additional, and Sun, Deming, additional
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- 2009
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47. Uric Acid Stones
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Rappold, Gudrun, primary, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Weber, Yvonne G., additional, Serratosa, Jose M., additional, Lehesjoki, Anna-Elina, additional, Baumer, Alessandra, additional, Kuilenburg, André B. P., additional, Gennip*, Albert H., additional, Rees, David C., additional, Fairbanks, Lynette D., additional, Simmonds, H. Anne, additional, Hesse, Albrecht, additional, Zimmermann, Diana J., additional, Von Unruh, Gerd E., additional, Hoppe, Bernd, additional, Siener, Roswitha, additional, Maalouf, Naim M., additional, Cameron, MaryAnn, additional, Sakhaee, Khashayar, additional, Leung, Alexander K. C., additional, Kupka, Susan, additional, Pfister, Markus, additional, Bechrakis, Nikolaos E., additional, Kaplan, Henry J., additional, Shao, Hui, additional, and Sun, Deming, additional
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- 2009
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48. Urate Gout
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Rappold, Gudrun, primary, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Weber, Yvonne G., additional, Serratosa, Jose M., additional, Lehesjoki, Anna-Elina, additional, Baumer, Alessandra, additional, Kuilenburg, André B. P., additional, Gennip*, Albert H., additional, Rees, David C., additional, Fairbanks, Lynette D., additional, Simmonds, H. Anne, additional, Hesse, Albrecht, additional, Zimmermann, Diana J., additional, Von Unruh, Gerd E., additional, Hoppe, Bernd, additional, Siener, Roswitha, additional, Maalouf, Naim M., additional, Cameron, MaryAnn, additional, Sakhaee, Khashayar, additional, Leung, Alexander K. C., additional, Kupka, Susan, additional, Pfister, Markus, additional, Bechrakis, Nikolaos E., additional, Kaplan, Henry J., additional, Shao, Hui, additional, and Sun, Deming, additional
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- 2009
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49. Udd Myopathy
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Rappold, Gudrun, primary, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Weber, Yvonne G., additional, Serratosa, Jose M., additional, Lehesjoki, Anna-Elina, additional, Baumer, Alessandra, additional, Kuilenburg, André B. P., additional, Gennip*, Albert H., additional, Rees, David C., additional, Fairbanks, Lynette D., additional, Simmonds, H. Anne, additional, Hesse, Albrecht, additional, Zimmermann, Diana J., additional, Von Unruh, Gerd E., additional, Hoppe, Bernd, additional, Siener, Roswitha, additional, Maalouf, Naim M., additional, Cameron, MaryAnn, additional, Sakhaee, Khashayar, additional, Leung, Alexander K. C., additional, Kupka, Susan, additional, Pfister, Markus, additional, Bechrakis, Nikolaos E., additional, Kaplan, Henry J., additional, Shao, Hui, additional, and Sun, Deming, additional
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- 2009
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50. Unstable Hemoglobin Disease
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Rappold, Gudrun, primary, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Weber, Yvonne G., additional, Serratosa, Jose M., additional, Lehesjoki, Anna-Elina, additional, Baumer, Alessandra, additional, Kuilenburg, André B. P., additional, Gennip*, Albert H., additional, Rees, David C., additional, Fairbanks, Lynette D., additional, Simmonds, H. Anne, additional, Hesse, Albrecht, additional, Zimmermann, Diana J., additional, Von Unruh, Gerd E., additional, Hoppe, Bernd, additional, Siener, Roswitha, additional, Maalouf, Naim M., additional, Cameron, MaryAnn, additional, Sakhaee, Khashayar, additional, Leung, Alexander K. C., additional, Kupka, Susan, additional, Pfister, Markus, additional, Bechrakis, Nikolaos E., additional, Kaplan, Henry J., additional, Shao, Hui, additional, and Sun, Deming, additional
- Published
- 2009
- Full Text
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