A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
Zunova, Hana, Stolfa, Miroslav, Kunikova, Tereza, Novotna, Drahuse, Valkovicova, Radka, Štěrbová, Katalin, Vlckova, Marketa
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
Sedláčková, Lucie, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Kudr, Martin, Buksakowska, Irena, Staněk, David, Seeman, Pavel
Published in European journal of medical genetics (01.09.2021)
Published in European journal of medical genetics (01.09.2021)
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Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
Štěrbová, Katalin, Vlčková, Markéta, Klement, Petr, Neupauerová, Jana, Staněk, David, Zůnová, Hana, Seeman, Pavel, Laššuthová, Petra
Published in Neuropediatrics (01.06.2018)
Published in Neuropediatrics (01.06.2018)
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UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
Sedláčková, Lucie, Laššuthová, Petra, Štěrbová, Katalin, Haberlová, Jana, Vyhnálková, Emílie, Neupauerová, Jana, Staněk, David, Šedivá, Marie, Kršek, Pavel, Seeman, Pavel
Published in Neuropediatrics (01.02.2019)
Published in Neuropediatrics (01.02.2019)
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Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy
Chen, Chunling, Ziobro, Julie, Robinson-Cooper, Larissa, Hodges, Samantha L, Chen, Yan, Edokobi, Nnamdi, Lopez-Santiago, Luis, Habig, Karl, Moore, Chloe, Minton, Joe, Bramson, Sabrina, Scheuing, Caroline, Daddo, Noor, Štěrbová, Katalin, Weckhuysen, Sarah, Parent, Jack M, Isom, Lori L
Published in Brain communications (2023)
Published in Brain communications (2023)
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Postnatal hypobaric hypoxia in rats impairs water maze learning and the morphology of neurones and macroglia in cortex and hippocampus
SIMONOVA, Zuzana, STERBOVA, Katalin, BROZEK, Gustav, KOMAREK, Vladimir, SYKOVA, Eva
Published in Behavioural brain research (15.05.2003)
Published in Behavioural brain research (15.05.2003)
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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Palotie, Aarno, Pendziwiat, Manuela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Singh, Rani, Smith, Michael C., Sullivan, Joe, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Winawer, Melodie R., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Marson, Anthony G., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.
Published in American journal of human genetics (02.10.2014)
Published in American journal of human genetics (02.10.2014)
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Journal Article
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Marini, Carla, Porro, Alessandro, Rastetter, Agnès, Dalle, Carine, Rivolta, Ilaria, Bauer, Daniel, Oegema, Renske, Nava, Caroline, Parrini, Elena, Mei, Davide, Mercer, Catherine, Dhamija, Radhika, Chambers, Chelsea, Coubes, Christine, Thévenon, Julien, Kuentz, Paul, Julia, Sophie, Pasquier, Laurent, Dubourg, Christèle, Carré, Wilfrid, Rosati, Anna, Melani, Federico, Pisano, Tiziana, Giardino, Maria, Innes, A Micheil, Alembik, Yves, Scheidecker, Sophie, Santos, Manuela, Figueiroa, Sonia, Garrido, Cristina, Fusco, Carlo, Frattini, Daniele, Spagnoli, Carlotta, Binda, Anna, Granata, Tiziana, Ragona, Francesca, Freri, Elena, Franceschetti, Silvana, Canafoglia, Laura, Castellotti, Barbara, Gellera, Cinzia, Milanesi, Raffaella, Mancardi, Maria Margherita, Clark, Damien R, Kok, Fernando, Helbig, Katherine L, Ichikawa, Shoji, Sadler, Laurie, Neupauerová, Jana, Laššuthova, Petra, Štěrbová, Katalin, Laridon, Annick, Brilstra, Eva, Koeleman, Bobby, Lemke, Johannes R, Zara, Federico, Striano, Pasquale, Soblet, Julie, Smits, Guillaume, Deconinck, Nicolas, Barbuti, Andrea, DiFrancesco, Dario, LeGuern, Eric, Guerrini, Renzo, Santoro, Bina, Hamacher, Kay, Thiel, Gerhard, Moroni, Anna, DiFrancesco, Jacopo C, Depienne, Christel
Published in Brain (London, England : 1878) (01.11.2018)
Published in Brain (London, England : 1878) (01.11.2018)
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
Staněk, David, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Neupauerová, Jana, Krůtová, Marcela, Seeman, Pavel
Published in Orphanet journal of rare diseases (02.05.2018)
Published in Orphanet journal of rare diseases (02.05.2018)
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Journal Article
Genetic heterogeneity in infantile spasms
Muir, Alison M., Myers, Candace T., Nguyen, Nancy T., Saykally, Julia, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Hoffman-Zacharska, Dorota, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Møller, Rikke S., Serratosa, Jose, Štěrbová, Katalin, Striano, Pasquale, von Spiczak, Sarah, Weckhuysen, Sarah, Mefford, Heather C.
Published in Epilepsy research (01.10.2019)
Published in Epilepsy research (01.10.2019)
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Journal Article
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
Zieg, Jakub, Bezdíčka, Martin, Němčíková, Michaela, Balaščáková, Miroslava, Suková, Martina, Štěrbová, Katalin, Vondrák, Karel, Dušek, Jiří, Křepelová, Anna
Published in Italian journal of pediatrics (19.01.2023)
Published in Italian journal of pediatrics (19.01.2023)
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Journal Article
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa
Published in Brain (London, England : 1878) (01.05.2020)
Published in Brain (London, England : 1878) (01.05.2020)
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Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
Prchalova, Darina, Havlovicova, Marketa, Sterbova, Katalin, Stranecky, Viktor, Hancarova, Miroslava, Sedlacek, Zdenek
Published in BMC medical genetics (02.06.2017)
Published in BMC medical genetics (02.06.2017)
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