Genetic variations and epilepsy

Christelle M. El Achkar, Heather E. Olson, Annapurna Poduri, Phillip L. Pearl, The Genetics of the Epilepsies Current Neurology and Neuroscience Reports. ,vol. 15, pp. 39- ,(2015) , 10.1007/S11910-015-0559-8

Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy Roberts, Eugene Roe, Caitlin Rollins, Mustafa Sahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet Soul, Joan M. Stoler, Masanori Takeoka, Wen-Han Tan, Alcy R. Torres, Peter Tsai, David K. Urion, Laura Weissman, Robert Wolff, Bai-Lin Wu, David T. Miller, Annapurna Poduri, Heather Olson, Yiping Shen, Jennifer Avallone, Beth R. Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Eksioglu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev Kothare, Omar Khwaja, Jonathan Lipton, Tobias Loddenkemper, Jennifer Markowitz, Copy number variation plays an important role in clinical epilepsy Annals of Neurology. ,vol. 75, pp. 943- 958 ,(2014) , 10.1002/ANA.24178

Aine Merwick, Margaret O’Brien, Norman Delanty, Complex single gene disorders and epilepsy Epilepsia. ,vol. 53, pp. 81- 91 ,(2012) , 10.1111/J.1528-1167.2012.03617.X

Christoph J. Schankin, Wolfram S. Kunz, Rainer Surges, Christian E. Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M. Klein, Felix Rosenow, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, Thomas Sander, , Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G. de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C. M. Sonsma, Bobby P. Koeleman, Dick Lindhout, Yvonne G. Weber, Holger Lerche, Claudia Kapser, Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies PLOS Genetics. ,vol. 11, pp. e1005226- 17 ,(2015) , 10.1371/JOURNAL.PGEN.1005226

Giovanni Sorge, Anna Sorge, Epilepsy and chromosomal abnormalities Italian Journal of Pediatrics. ,vol. 36, pp. 36- 36 ,(2010) , 10.1186/1824-7288-36-36

Ingo Helbig, Marielle E M Swinkels, Emmelien Aten, Almuth Caliebe, Ruben van 't Slot, Rainer Boor, Sarah von Spiczak, Hiltrud Muhle, Johanna A Jähn, Ellen van Binsbergen, Onno van Nieuwenhuizen, Floor E Jansen, Kees P J Braun, Gerrit-Jan de Haan, Niels Tommerup, Ulrich Stephani, Helle Hjalgrim, Martin Poot, Dick Lindhout, Eva H Brilstra, Rikke S Møller, Bobby PC Koeleman, Structural genomic variation in childhood epilepsies with complex phenotypes. European Journal of Human Genetics. ,vol. 22, pp. 896- 901 ,(2014) , 10.1038/EJHG.2013.262

Annapurna Poduri, Beth Rosen Sheidley, Sara Shostak, Ruth Ottman, Genetic testing in the epilepsies—developments and dilemmas Nature Reviews Neurology. ,vol. 10, pp. 293- 299 ,(2014) , 10.1038/NRNEUROL.2014.60

Karen L. Skjei, Dennis J. Dlugos, The Evaluation of Treatment-Resistant Epilepsy Seminars in Pediatric Neurology. ,vol. 18, pp. 150- 170 ,(2011) , 10.1016/J.SPEN.2011.06.002

Josephine Wincent, Sintia Kolbjer, Daniel Martin, Aron Luthman, Per Åmark, Maria Dahlin, Britt-Marie Anderlid, Copy number variations in children with brain malformations and refractory epilepsy. American Journal of Medical Genetics Part A. ,vol. 167, pp. 512- 523 ,(2015) , 10.1002/AJMG.A.36886

Anna L Peljto, Christie Barker-Cummings, Vincent M Vasoli, Cynthia L Leibson, W Allen Hauser, Jeffrey R Buchhalter, Ruth Ottman, None, Familial risk of epilepsy: a population-based study Brain. ,vol. 137, pp. 795- 805 ,(2014) , 10.1093/BRAIN/AWT368