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	61.	Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. [electronic resource] by Møller, 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 Sander, Thomas Producer: 20130402 In: Epilepsia vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. [electronic resource] by Tan, Chuan Shard, Chloe Ranieri, Enzo Hynes, Kim Pham, Duyen H Leach, Damian Buchanan, Grant Corbett, Mark Shoubridge, Cheryl Kumar, Raman Douglas, Evelyn Nguyen, Lam S Mcmahon, Jacinta Sadleir, Lynette Specchio, Nicola Marini, Carla Guerrini, Renzo Moller, Rikke S Depienne, Christel Haan, Eric Thomas, Paul Q Berkovic, Samuel F Scheffer, Ingrid E Gecz, Jozef Producer: 20160531 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. [electronic resource] by Larsen, Jan Johannesen, Katrine Marie Ek, Jakob Tang, Shan Marini, Carla Blichfeldt, Susanne Kibaek, Maria von Spiczak, Sarah Weckhuysen, Sarah Frangu, Mimoza Neubauer, Bernd Axel Uldall, Peter Striano, Pasquale Zara, Federico Kleiss, Rebecca Simpson, Michael Muhle, Hiltrud Nikanorova, Marina Jepsen, Birgit Tommerup, Niels Stephani, Ulrich Guerrini, Renzo Duno, Morten Hjalgrim, Helle Pal, Deb Helbig, Ingo Møller, Rikke Steensbjerre Producer: 20160408 In: Epilepsia vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	Treatment Responsiveness in KCNT1-Related Epilepsy. [electronic resource] by Fitzgerald, Mark P Fiannacca, Martina Smith, Douglas M Gertler, Tracy S Gunning, Boudewijn Syrbe, Steffen Verbeek, Nienke Stamberger, Hannah Weckhuysen, Sarah Ceulemans, Berten Schoonjans, An-Sofie Rossi, Massimiliano Demarquay, Geneviève Lesca, Gaetan Olofsson, Kern Koolen, D A Hornemann, Frauke Baulac, Stephanie Rubboli, Guido Minks, Kelly Q Lee, Bohoon Helbig, Ingo Dlugos, Dennis Møller, Rikke S Bearden, David Producer: 20200625 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. [electronic resource] by 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 Producer: 20150729 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. [electronic resource] by 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 Producer: 20200311 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. [electronic resource] by Chatron, Nicolas Møller, Rikke S Champaigne, Neena L Schneider, Amy L Kuechler, Alma Labalme, Audrey Simonet, Thomas Baggett, Lauren Bardel, Claire Kamsteeg, Erik-Jan Pfundt, Rolph Romano, Corrado Aronsson, Johan Alberti, Antonino Vinci, Mirella Miranda, Maria J Lacroix, Amy Marjanovic, Dragan des Portes, Vincent Edery, Patrick Wieczorek, Dagmar Gardella, Elena Scheffer, Ingrid E Mefford, Heather Sanlaville, Damien Carvill, Gemma L Lesca, Gaetan Producer: 20190813 In: Annals of neurology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	68.	Structural genomic variation in childhood epilepsies with complex phenotypes. [electronic resource] by Helbig, Ingo Swinkels, Marielle E M Aten, Emmelien Caliebe, Almuth van 't Slot, Ruben Boor, Rainer von Spiczak, Sarah Muhle, Hiltrud Jähn, Johanna A van Binsbergen, Ellen van Nieuwenhuizen, Onno Jansen, Floor E Braun, Kees P J de Haan, Gerrit-Jan Tommerup, Niels Stephani, Ulrich Hjalgrim, Helle Poot, Martin Lindhout, Dick Brilstra, Eva H Møller, Rikke S Koeleman, Bobby P C Producer: 20150212 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	The phenotype of [electronic resource] by Gardella, Elena Marini, Carla Trivisano, Marina Fitzgerald, Mark P Alber, Michael Howell, Katherine B Darra, Francesca Siliquini, Sabrina Bölsterli, Bigna K Masnada, Silva Pichiecchio, Anna Johannesen, Katrine M Jepsen, Birgit Fontana, Elena Anibaldi, Gaia Russo, Silvia Cogliati, Francesca Montomoli, Martino Specchio, Nicola Rubboli, Guido Veggiotti, Pierangelo Beniczky, Sandor Wolff, Markus Helbig, Ingo Vigevano, Federico Scheffer, Ingrid E Guerrini, Renzo Møller, Rikke S Producer: 20190830 In: Neurology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	70.	PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. [electronic resource] by Bayat, Allan Knaus, Alexej Juul, Annika Wollenberg Dukic, Dejan Gardella, Elena Charzewska, Agnieszka Clement, Emma Hjalgrim, Helle Hoffman-Zacharska, Dorota Horn, Denise Horton, Rachel Hurst, Jane A Josifova, Dragana Larsen, Line H G Lascelles, Karine Obersztyn, Ewa Pagnamenta, Alistair Pal, Deb K Pendziwiat, Manuela Ryten, Mina Taylor, Jenny Vogt, Julie Weber, Yvonne Krawitz, Peter M Helbig, Ingo Kini, Usha Møller, Rikke S Producer: 20200317 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	71.	Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. [electronic resource] by de Kovel, Carolien G F Brilstra, Eva H van Kempen, Marjan J A Van't Slot, Ruben Nijman, Isaac J Afawi, Zaid De Jonghe, Peter Djémié, Tania Guerrini, Renzo Hardies, Katia Helbig, Ingo Hendrickx, Rik Kanaan, Moine Kramer, Uri Lehesjoki, Anna-Elina E Lemke, Johannes R Marini, Carla Mei, Davide Møller, Rikke S Pendziwiat, Manuela Stamberger, Hannah Suls, Arvid Weckhuysen, Sarah Koeleman, Bobby P C Producer: 20160921 In: Molecular genetics & genomic medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	72.	Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. [electronic resource] by Gardella, Elena Becker, Felicitas Møller, 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 Bakke Møller, Louise Gellert, Pia Heron, Sarah E Dibbens, Leanne M Weckhuysen, Sarah Dahl, Hans Atli Biskup, Saskia Tommerup, Niels Hjalgrim, Helle Lerche, Holger Beniczky, Sándor Weber, Yvonne G Producer: 20160719 In: Annals of neurology vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	73.	GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. [electronic resource] by Carvill, Gemma L Weckhuysen, Sarah McMahon, Jacinta M Hartmann, Corinna Møller, Rikke S Hjalgrim, Helle Cook, Joseph Geraghty, Eileen O'Roak, Brian J Petrou, Steve Clarke, Alison Gill, Deepak Sadleir, Lynette G Muhle, Hiltrud von Spiczak, Sarah Nikanorova, Marina Hodgson, Bree L Gazina, Elena V Suls, Arvid Shendure, Jay Dibbens, Leanne M De Jonghe, Peter Helbig, Ingo Berkovic, Samuel F Scheffer, Ingrid E Mefford, Heather C Producer: 20140618 In: Neurology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	74.	Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. [electronic resource] by Berryer, Martin H Hamdan, Fadi F Klitten, Laura L Møller, Rikke S Carmant, Lionel Schwartzentruber, Jeremy Patry, Lysanne Dobrzeniecka, Sylvia Rochefort, Daniel Neugnot-Cerioli, Mathilde Lacaille, Jean-Claude Niu, Zhiyv Eng, Christine M Yang, Yaping Palardy, Sylvain Belhumeur, Céline Rouleau, Guy A Tommerup, Niels Immken, Ladonna Beauchamp, Miriam H Patel, Gayle Simpson Majewski, Jacek Tarnopolsky, Mark A Scheffzek, Klaus Hjalgrim, Helle Michaud, Jacques L Di Cristo, Graziella Producer: 20130726 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	75.	Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. [electronic resource] by Jønch, Aia Elise Douard, Elise Moreau, Clara Van Dijck, Anke Passeggeri, Marzia Kooy, Frank Puechberty, Jacques Campbell, Carolyn Sanlaville, Damien Lefroy, Henrietta Richetin, Sonia Pain, Aurelie Geneviève, David Kini, Usha Le Caignec, Cédric Lespinasse, James Skytte, Anne-Bine Isidor, Bertrand Zweier, Christiane Caberg, Jean-Hubert Delrue, Marie-Ange Møller, Rikke Steensbjerre Bojesen, Anders Hjalgrim, Helle Brasch-Andersen, Charlotte Lemyre, Emmanuelle Ousager, Lilian Bomme Jacquemont, Sébastien Producer: 20200615 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	76.	Progress in Understanding and Treating SCN2A-Mediated Disorders. [electronic resource] by Sanders, Stephan J Campbell, Arthur J Cottrell, Jeffrey R Moller, Rikke S Wagner, Florence F Auldridge, Angie L Bernier, Raphael A Catterall, William A Chung, Wendy K Empfield, James R George, Alfred L Hipp, Joerg F Khwaja, Omar Kiskinis, Evangelos Lal, Dennis Malhotra, Dheeraj Millichap, John J Otis, Thomas S Petrou, Steven Pitt, Geoffrey Schust, Leah F Taylor, Cora M Tjernagel, Jennifer Spiro, John E Bender, Kevin J Producer: 20181211 In: Trends in neurosciences vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	77.	Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. [electronic resource] by Weckhuysen, Sarah Ivanovic, Vanja Hendrickx, Rik Van Coster, Rudy Hjalgrim, Helle Møller, Rikke S Grønborg, Sabine Schoonjans, An-Sofie Ceulemans, Berten Heavin, Sinead B Eltze, Christin Horvath, Rita Casara, Gianluca Pisano, Tiziana Giordano, Lucio Rostasy, Kevin Haberlandt, Edda Albrecht, Beate Bevot, Andrea Benkel, Ira Syrbe, Steffan Sheidley, Beth Guerrini, Renzo Poduri, Annapurna Lemke, Johannes R Mandelstam, Simone Scheffer, Ingrid Angriman, Marco Striano, Pasquale Marini, Carla Suls, Arvid De Jonghe, Peter Producer: 20131223 In: Neurology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	78.	De novo variants in neurodevelopmental disorders with epilepsy. [electronic resource] by 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 Poduri, Annapurna Weber, Yvonne G Weckhuysen, Sarah Sisodiya, Sanjay M Daly, Mark J Helbig, Ingo Lal, Dennis Lemke, Johannes R Producer: 20190424 In: Nature genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	79.	No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. [electronic resource] by Schulz, Herbert Ruppert, Ann-Kathrin Zara, Federico Madia, Francesca Iacomino, Michele S Vari, Maria Balagura, Ganna Minetti, Carlo Striano, Pasquale Bianchi, Amedeo Marini, Carla Guerrini, Renzo Weber, Yvonne G Becker, Felicitas Lerche, Holger Kapser, Claudia Schankin, Christoph J Kunz, Wolfram S Møller, Rikke S Oliver, Karen L Bellows, Susannah T Mullen, Saul A Berkovic, Samuel F Scheffer, Ingrid E Caglayan, Hande Ozbek, Ugur Hoffmann, Per Schramm, Sara Tsortouktzidis, Despina Becker, Albert J Sander, Thomas Producer: 20200427 In: Epilepsia vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	80.	'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. [electronic resource] by Boissé Lomax, Lysa Bayly, Marta A Hjalgrim, Helle Møller, Rikke S Vlaar, Annemarie M Aaberg, Kari M Marquardt, Iris Gandolfo, Luke C Willemsen, Michèl Kamsteeg, Erik-Jan O'Sullivan, John D Korenke, G Christoph Bloem, Bastiaan R de Coo, Irenaeus F Verhagen, Judith M A Said, Ines Prescott, Trine Stray-Pedersen, Asbjørg Rasmussen, Magnhild Vears, Danya F Lehesjoki, Anna-Elina Corbett, Mark A Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M Berkovic, Samuel F Producer: 20130530 In: Brain : a journal of neurology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 130 results.