The Genetics of Epilepsy von Perucca, Piero, Bahlo, Melanie, Berkovic, Samuel F

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation von Traynelis, Joshua, Silk, Michael, Wang, Quanli, Berkovic, Samuel F, Liu, Liping, Ascher, David B, Balding, David J, Petrovski, Slavé

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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage von Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.

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Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study von Cook, Mark J, Prof, O'Brien, Terence J, Prof, Berkovic, Samuel F, Prof, Murphy, Michael, MD, Morokoff, Andrew, PhD, Fabinyi, Gavin, MBBS, D'Souza, Wendyl, PhD, Yerra, Raju, MBBS, Archer, John, PhD, Litewka, Lucas, BSc, Hosking, Sean, RN, Lightfoot, Paul, BSc, Ruedebusch, Vanessa, BSME, Sheffield, W Douglas, VMD, Snyder, David, MSEE, Leyde, Kent, MSEE, Himes, David, BSEE

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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis von Mole, Sara E, Anderson, Glenn, Band, Heather A, Berkovic, Samuel F, Cooper, Jonathan D, Kleine Holthaus, Sophia-Martha, McKay, Tristan R, Medina, Diego L, Rahim, Ahad A, Schulz, Angela, Smith, Alexander J

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State transitions through inhibitory interneurons in a cortical network model von Bryson, Alexander, Berkovic, Samuel F., Petrou, Steven, Grayden, David B.

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Sodium channels and the neurobiology of epilepsy von Oliva, Megan, Berkovic, Samuel F., Petrou, Steven

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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy von Bagnall, Richard D., Crompton, Douglas E., Petrovski, Slavé, Lam, Lien, Cutmore, Carina, Garry, Sarah I., Sadleir, Lynette G., Dibbens, Leanne M., Cairns, Anita, Kivity, Sara, Afawi, Zaid, Regan, Brigid M., Duflou, Johan, Berkovic, Samuel F., Scheffer, Ingrid E., Semsarian, Christopher

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Brivaracetam as adjunctive treatment for uncontrolled partial epilepsy in adults: A phase III randomized, double‐blind, placebo‐controlled trial von Biton, Victor, Berkovic, Samuel F., Abou‐Khalil, Bassel, Sperling, Michael R., Johnson, Martin E., Lu, Sarah

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Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 von Berg, Anne T., Berkovic, Samuel F., Brodie, Martin J., Buchhalter, Jeffrey, Cross, J. Helen, Van Emde Boas, Walter, Engel, Jerome, French, Jacqueline, Glauser, Tracy A., Mathern, Gary W., Moshé, Solomon L., Nordli, Douglas, Plouin, Perrine, Scheffer, Ingrid E.

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Genetic generalized epilepsies von Mullen, Saul A., Berkovic, Samuel F., Berkovic, Samuel F, Lowenstein, Daniel H, Kato, Mitsuhiro, Cross, Helen, Satishchandra, Parthasathy, Jonghe, Peter, Goldman, Alica, Petrou, Steve, Tan, Nigel CK, Helbig, Ingo, Mefford, Heather C, Jiang, Yuwu

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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy von Heron, Sarah E, Smith, Katherine R, Bahlo, Melanie, Nobili, Lino, Kahana, Esther, Licchetta, Laura, Oliver, Karen L, Mazarib, Aziz, Afawi, Zaid, Korczyn, Amos, Plazzi, Giuseppe, Petrou, Steven, Berkovic, Samuel F, Scheffer, Ingrid E, Dibbens, Leanne M

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KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine von Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven

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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy von Ricos, Michael G., Hodgson, Bree L., Pippucci, Tommaso, Saidin, Akzam, Ong, Yeh Sze, Heron, Sarah E., Licchetta, Laura, Bisulli, Francesca, Bayly, Marta A., Hughes, James, Baldassari, Sara, Palombo, Flavia, Santucci, Margherita, Meletti, Stefano, Berkovic, Samuel F., Rubboli, Guido, Thomas, Paul Q., Scheffer, Ingrid E., Tinuper, Paolo, Geoghegan, Joel, Schreiber, Andreas W., Dibbens, Leanne M.

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures von Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy von Weckhuysen, Sarah, Mandelstam, Simone, Suls, Arvid, Audenaert, Dominique, Deconinck, Tine, Claes, Lieve R.F., Deprez, Liesbet, Smets, Katrien, Hristova, Dimitrina, Yordanova, Iglika, Jordanova, Albena, Ceulemans, Berten, Jansen, An, Hasaerts, Danièle, Roelens, Filip, Lagae, Lieven, Yendle, Simone, Stanley, Thorsten, Heron, Sarah E., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Peter de Jonghe

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Somatic mutation: The hidden genetics of brain malformations and focal epilepsies von Ye, Zimeng, McQuillan, Lara, Poduri, Annapurna, Green, Timothy E., Matsumoto, Naomichi, Mefford, Heather C., Scheffer, Ingrid E., Berkovic, Samuel F., Hildebrand, Michael S.

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GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons von Bryson, Alexander, Hatch, Robert John, Zandt, Bas-Jan, Rossert, Christian, Berkovic, Samuel F., Reid, Christopher A., Grayden, David B., Hill, Sean L., Petrou, Steven

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Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma von Green, Timothy E, Fujita, Atsushi, Ghaderi, Navid, Heinzen, Erin L, Matsumoto, Naomichi, Klein, Karl Martin, Berkovic, Samuel F, Hildebrand, Michael S

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Navigating the channels and beyond: unravelling the genetics of the epilepsies von Helbig, Ingo, MD, Scheffer, Ingrid E, MBBS, Mulley, John C, PhD, Berkovic, Samuel F, MD

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