Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death
Buerki, Sarah E, Haas, Cordula, Neubauer, Jacqueline
Published in Seizure (London, England) (01.12.2023)
Published in Seizure (London, England) (01.12.2023)
Get full text
Journal Article
Response to the letter from Josef Finsterer regarding our article "Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death"
Buerki, Sarah E, Haas, Cordula, Neubauer, Jacqueline
Published in Seizure (London, England) (01.01.2024)
Published in Seizure (London, England) (01.01.2024)
Get full text
Journal Article
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
Get full text
Journal Article
Incidence and outcomes of symptomatic neonatal arterial ischemic stroke
Grunt, Sebastian, Mazenauer, Lea, Buerki, Sarah E, Boltshauser, Eugen, Mori, Andrea Capone, Datta, Alexandre N, Fluss, Joël, Mercati, Danielle, Keller, Elmar, Maier, Oliver, Poloni, Claudia, Ramelli, Gian-Paolo, Schmitt-Mechelke, Thomas, Steinlin, Maja
Published in Pediatrics (Evanston) (01.05.2015)
Published in Pediatrics (Evanston) (01.05.2015)
Get more information
Journal Article
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J
Published in Frontiers in neurology (21.05.2019)
Published in Frontiers in neurology (21.05.2019)
Get full text
Journal Article
The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy
Datta, Alexandre N., Bahi‐Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E., Gardiner, Fiona, Cross, J. Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian M., Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C., Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M., Ruf, Susanne, Sadleir, Lynette G., Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E., Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E., Lemke, Johannes R.
Published in Epilepsia (Copenhagen) (01.02.2021)
Published in Epilepsia (Copenhagen) (01.02.2021)
Get full text
Journal Article
Focal hemodynamic patterns of status epilepticus detected by susceptibility weighted imaging (SWI)
Aellen, Jerome, Abela, Eugenio, Buerki, Sarah E., Kottke, Raimund, Springer, Elisabeth, Schindler, Kaspar, Weisstanner, Christian, El-Koussy, Marwan, Schroth, Gerhard, Wiest, Roland, Gralla, Jan, Verma, Rajeev K.
Published in European radiology (01.11.2014)
Published in European radiology (01.11.2014)
Get full text
Journal Article
The importance of cerebral magnetic resonance imaging in evaluation of neonatal seizures
Buerki, Sarah E, Connolly, Mary B
Published in Developmental medicine and child neurology (01.03.2015)
Published in Developmental medicine and child neurology (01.03.2015)
Get full text
Journal Article
An Infant With Epilepsy and Recurrent Hemiplegia Due to Compound Heterozygous Variants in ATP1A2
Wilbur, Colin, Buerki, Sarah E, Guella, Ilaria, Toyota, Eric, Evans, Daniel M, Mckenzie, Marna B, Datta, Anita, Michoulas, Aspasia, Adam, Shelin, Van Allen, Margot, Nelson, Tanya N, Farrer, Matthew J, Connolly, Mary B, Demos, Michelle
Published in Pediatric neurology (01.10.2017)
Published in Pediatric neurology (01.10.2017)
Get full text
Journal Article
Inflammatory markers in pediatric stroke: An attempt to better understanding the pathophysiology
Buerki, Sarah E, Grandgirard, Denis, Datta, Alexandre N, Hackenberg, Annette, Martin, Florence, Schmitt-Mechelke, Thomas, Leib, Stephen L, Steinlin, Maja
Published in European journal of paediatric neurology (01.03.2016)
Published in European journal of paediatric neurology (01.03.2016)
Get full text
Journal Article
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
Get full text
Journal Article
Auditory Event-Related Potentials, Bispectral Index, and Entropy for the Discrimination of Different Levels of Sedation in Intensive Care Unit Patients
HAENGGI, Matthias, YPPARILA-WOLTERS, Heidi, BUERKI, Sarah, SCHLAURI, Rebekka, KORHONEN, Ilkka, TAKALA, Jukka, JAKOB, Stephan M
Published in Anesthesia and analgesia (01.09.2009)
Published in Anesthesia and analgesia (01.09.2009)
Get full text
Journal Article
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
Guella, Ilaria, Huh, Linda, McKenzie, Marna B, Toyota, Eric B, Bebin, E Martina, Thompson, Michelle L, Cooper, Gregory M, Evans, Daniel M, Buerki, Sarah E, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Connolly, Mary B, Farrer, Matthew J, Demos, Michelle
Published in Neurology. Genetics (01.12.2016)
Published in Neurology. Genetics (01.12.2016)
Get full text
Journal Article
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Lemke, Johannes R, Lal, Dennis, Reinthaler, Eva M, Steiner, Isabelle, Nothnagel, Michael, Alber, Michael, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Finsterwalder, Katrin, Franke, Andre, Schilhabel, Markus, Jähn, Johanna A, Muhle, Hiltrud, Boor, Rainer, Van Paesschen, Wim, Caraballo, Roberto, Fejerman, Natalio, Weckhuysen, Sarah, De Jonghe, Peter, Larsen, Jan, Møller, Rikke S, Hjalgrim, Helle, Addis, Laura, Tang, Shan, Hughes, Elaine, Pal, Deb K, Veri, Kadi, Vaher, Ulvi, Talvik, Tiina, Dimova, Petia, Guerrero López, Rosa, Serratosa, José M, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Ruf, Susanne, Wolff, Markus, Buerki, Sarah, Wohlrab, Gabriele, Kroell, Judith, Datta, Alexandre N, Fiedler, Barbara, Kurlemann, Gerhard, Kluger, Gerhard, Hahn, Andreas, Haberlandt, D Edda, Kutzer, Christina, Sperner, Jürgen, Becker, Felicitas, Weber, Yvonne G, Feucht, Martha, Steinböck, Hannelore, Neophythou, Birgit, Ronen, Gabriel M, Gruber-Sedlmayr, Ursula, Geldner, Julia, Harvey, Robert J, Hoffmann, Per, Herms, Stefan, Altmüller, Janine, Toliat, Mohammad R, Thiele, Holger, Nürnberg, Peter, Wilhelm, Christian, Stephani, Ulrich, Helbig, Ingo, Lerche, Holger, Zimprich, Fritz, Neubauer, Bernd A, Biskup, Saskia, von Spiczak, Sarah
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
Get full text
Journal Article
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
Lemke, Johannes R., Riesch, Erik, Scheurenbrand, Tim, Schubach, Max, Wilhelm, Christian, Steiner, Isabelle, Hansen, Jörg, Courage, Carolina, Gallati, Sabina, Bürki, Sarah, Strozzi, Susi, Simonetti, Barbara Goeggel, Grunt, Sebastian, Steinlin, Maja, Alber, Michael, Wolff, Markus, Klopstock, Thomas, Prott, Eva C., Lorenz, Rüdiger, Spaich, Christiane, Rona, Sabine, Lakshminarasimhan, Maya, Kröll, Judith, Dorn, Thomas, Krämer, Günter, Synofzik, Matthis, Becker, Felicitas, Weber, Yvonne G., Lerche, Holger, Böhm, Detlef, Biskup, Saskia
Published in Epilepsia (Copenhagen) (01.08.2012)
Published in Epilepsia (Copenhagen) (01.08.2012)
Get full text
Journal Article
SETD1B-associated neurodevelopmental disorder
Roston, Alexandra, Evans, Dan, Gill, Harinder, McKinnon, Margaret, Isidor, Bertrand, Cogné, Benjamin, Mwenifumbo, Jill, van Karnebeek, Clara, An, Jianghong, Jones, Steven J M, Farrer, Matthew, Demos, Michelle, Connolly, Mary, Gibson, William T, Adam, Shelin, Dragojlovic, Nick, Souich, Christèle du, Elliott, Alison M, Lehman, Anna, Lynd, Larry, Mwenifumbo, Jill, Nelson, Tanya N, Karnebeek, Clara van, Friedman, Jan M, Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E, Candido, Tara, Eydoux, Patrice, Evans, Daniel M, Gibson, William T, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B, Townsend, Katelin N, Allen, Margot I Van, Vercauteren, Suzanne
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
Get full text
Journal Article
Acute ischemic stroke in children versus young adults
Bigi, Sandra, Fischer, Urs, Wehrli, Edith, Mattle, Heinrich P., Boltshauser, Eugen, Bürki, Sarah, Jeannet, Pierre-Yves, Fluss, Joel, Weber, Peter, Nedeltchev, Krassen, El-Koussy, Marwan, Steinlin, Maja, Arnold, Marcel
Published in Annals of neurology (01.08.2011)
Published in Annals of neurology (01.08.2011)
Get full text
Journal Article
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide
Datta, Anita N, Michoulas, Aspasia, Guella, Ilaria, Demos, Michelle
Published in Journal of child neurology (01.10.2019)
Published in Journal of child neurology (01.10.2019)
Get more information
Journal Article