Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
Corbett, Mark A., Depienne, Christel, Veneziano, Liana, Klein, Karl Martin, Brancati, Francesco, Guerrini, Renzo, Zara, Federico, Tsuji, Shoji, Gecz, Jozef
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Journal Article
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique
Klein, Karl Martin, Mascarenhas, Rumika, Merrikh, Daria, Khanbabaei, Maryam, Maroilley, Tatiana, Kaur, Navprabhjot, Liu, Yiping, Soule, Tyler, Manalo, Minette, Tamura, Goichiro, Jacobs, Julia, Hader, Walter, Pfeffer, Gerald, Tarailo‐Graovac, Maja
Published in Epilepsia (Copenhagen) (01.06.2024)
Published in Epilepsia (Copenhagen) (01.06.2024)
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Journal Article
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Balestrini, Simona, Chiarello, Daniela, Gogou, Maria, Silvennoinen, Katri, Puvirajasinghe, Clinda, Jones, Wendy D, Reif, Philipp, Klein, Karl Martin, Rosenow, Felix, Weber, Yvonne G, Lerche, Holger, Schubert-Bast, Susanne, Borggraefe, Ingo, Coppola, Antonietta, Troisi, Serena, Møller, Rikke S, Riva, Antonella, Striano, Pasquale, Zara, Federico, Hemingway, Cheryl, Marini, Carla, Rosati, Anna, Mei, Davide, Montomoli, Martino, Guerrini, Renzo, Cross, J Helen, Sisodiya, Sanjay M
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2021)
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Journal Article
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Canavati, Christina, Klein, Karl Martin, Afawi, Zaid, Pendziwiat, Manuela, Abu Rayyan, Amal, Kamal, Lara, Zahdeh, Fouad, Qaysia, Ikram, Helbig, Ingo, Kanaan, Moien
Published in Epilepsia (Copenhagen) (01.06.2019)
Published in Epilepsia (Copenhagen) (01.06.2019)
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Journal Article
Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus
Strzelczyk, Adam, Kay, Lara, Bauer, Sebastian, Immisch, Ilka, Klein, Karl Martin, Knake, Susanne, Kowski, Alexander, Kunz, Rhina, Kurlemann, Gerhard, Langenbruch, Lisa, Möddel, Gabriel, Müller‐Schlüter, Karen, Reif, Philipp S., Schubert‐Bast, Susanne, Steinhoff, Bernhard J., Steinig, Isabel, Willems, Laurent M., Podewils, Felix, Rosenow, Felix
Published in Epilepsia (Copenhagen) (01.08.2018)
Published in Epilepsia (Copenhagen) (01.08.2018)
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Journal Article
Machine learning using multimodal clinical, electroencephalographic, and magnetic resonance imaging data can predict incident depression in adults with epilepsy: A pilot study
Delgado-García, Guillermo, Engbers, Jordan D T, Wiebe, Samuel, Mouches, Pauline, Amador, Kimberly, Forkert, Nils D, White, James, Sajobi, Tolulope, Klein, Karl Martin, Josephson, Colin B
Published in Epilepsia (Copenhagen) (01.10.2023)
Published in Epilepsia (Copenhagen) (01.10.2023)
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Journal Article
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
Green, Timothy E, Fujita, Atsushi, Ghaderi, Navid, Heinzen, Erin L, Matsumoto, Naomichi, Klein, Karl Martin, Berkovic, Samuel F, Hildebrand, Michael S
Published in Neurobiology of disease (01.09.2023)
Published in Neurobiology of disease (01.09.2023)
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Journal Article
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
de Kovel, Carolien G F, Syrbe, Steffen, Brilstra, Eva H, Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K, Krok, Bryan L, Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R, van den Boogaardt, Marie-José, Møller, Rikke S, Koeleman, Bobby P C
Published in JAMA neurology (01.10.2017)
Published in JAMA neurology (01.10.2017)
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A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany
Strzelczyk, Adam, Schubert‐Bast, Susanne, Bast, Thomas, Bettendorf, Ulrich, Fiedler, Barbara, Hamer, Hajo M., Herting, Arne, Kalski, Malin, Kay, Lara, Kieslich, Matthias, Klein, Karl Martin, Kluger, Gerhard, Kurlemann, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, von Spiczak, Sarah, Stephani, Ulrich, Trollmann, Regina, Wiemer‐Kruel, Adelheid, Wolff, Markus, Irwin, John, Carroll, Joe, Pritchard, Clive, Rosenow, Felix
Published in Epilepsia (Copenhagen) (01.08.2019)
Published in Epilepsia (Copenhagen) (01.08.2019)
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Journal Article
Primary care electronic medical records can be used to predict risk and identify potentially modifiable factors for early and late death in adult onset epilepsy
Hrabok, Marianne, Engbers, Jordan D. T., Wiebe, Samuel, Sajobi, Tolulope T., Subota, Ann, Almohawes, Amal, Federico, Paolo, Hanson, Alexandra, Klein, Karl Martin, Peedicail, Joseph, Pillay, Neelan, Singh, Shaily, Josephson, Colin B.
Published in Epilepsia (Copenhagen) (01.01.2021)
Published in Epilepsia (Copenhagen) (01.01.2021)
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Journal Article
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria
Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie‐Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T., Wagnon, Jacy L., Liaquat, Khalida, Cilio, Maria Roberta, Mirzaa, Ghayda, Park, Kristen, Axeen, Erika, Butler, Elizabeth, Bardakjian, Tanya M., Striano, Pasquale, Poduri, Annapurna, Siegert, Rebecca K., Grant, Andrew R., Helbig, Katherine L., Mefford, Heather C.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures
Klein, Karl Martin, Pendziwiat, Manuela, Eilam, Anda, Gilad, Ronit, Blatt, Ilan, Rosenow, Felix, Kanaan, Moien, Helbig, Ingo, Afawi, Zaid
Published in Journal of neurology (01.07.2017)
Published in Journal of neurology (01.07.2017)
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Journal Article
Assessment of genetic variant burden in epilepsy-associated brain lesions
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, Lal, Dennis
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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Journal Article
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
Zöllner, Johann Philipp, Grau, Janina, Rosenow, Felix, Sauter, Matthias, Knuf, Markus, Kurlemann, Gerhard, Mayer, Thomas, Hertzberg, Christoph, Bertsche, Astrid, Immisch, Ilka, Klein, Karl Martin, Knake, Susanne, Marquard, Klaus, Meyer, Sascha, Noda, Anna H, von Podewils, Felix, Schäfer, Hannah, Thiels, Charlotte, Willems, Laurent M, Zukunft, Bianca, Schubert-Bast, Susanne, Strzelczyk, Adam
Published in Orphanet journal of rare diseases (02.06.2021)
Published in Orphanet journal of rare diseases (02.06.2021)
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Journal Article
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach
Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin
Published in Epilepsia open (01.06.2023)
Published in Epilepsia open (01.06.2023)
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Journal Article
Prescribing practice of pregabalin/gabapentin in pain therapy: an evaluation of German claim data
Viniol, Annika, Ploner, Tina, Hickstein, Lennart, Haasenritter, Jörg, Klein, Karl Martin, Walker, Jochen, Donner-Banzhoff, Norbert, Becker, Annette
Published in BMJ open (30.03.2019)
Published in BMJ open (30.03.2019)
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Journal Article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Henden, Lyndal, Freytag, Saskia, Afawi, Zaid, Baldassari, Sara, Berkovic, Samuel F., Bisulli, Francesca, Canafoglia, Laura, Casari, Giorgio, Crompton, Douglas Ewan, Depienne, Christel, Gecz, Jozef, Guerrini, Renzo, Helbig, Ingo, Hirsch, Edouard, Keren, Boris, Klein, Karl Martin, Labauge, Pierre, LeGuern, Eric, Licchetta, Laura, Mei, Davide, Nava, Caroline, Pippucci, Tommaso, Rudolf, Gabrielle, Scheffer, Ingrid Eileen, Striano, Pasquale, Tinuper, Paolo, Zara, Federico, Corbett, Mark, Bahlo, Melanie
Published in Human genetics (01.10.2016)
Published in Human genetics (01.10.2016)
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Journal Article
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy
Martin, Sarah, Strzelczyk, Adam, Lindlar, Silvia, Krause, Kristina, Reif, Philipp S., Menzler, Katja, Chiocchetti, Andreas G., Rosenow, Felix, Knake, Susanne, Klein, Karl Martin
Published in Frontiers in neurology (10.09.2019)
Published in Frontiers in neurology (10.09.2019)
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Journal Article
Evidence for genetic factors in vasovagal syncope: a twin-family study
Klein, Karl Martin, Xu, San San, Lawrence, Kate, Fischer, Alexandra, Berkovic, Samuel F
Published in Neurology (07.08.2012)
Published in Neurology (07.08.2012)
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