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Epilepsy currents, ISSN 1535-7511, 01/2019, Volume 15, Issue 4, pp. 197 - 201
New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies... 
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genomes | Diagnosis | Mutation | Patients | Epilepsy | Genetic screening | Current Reviews in Epilepsy Genetics
Journal Article
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England journal of medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epilepsy Phenome/Genome Project and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project
American journal of human genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
by Allen, Andrew S and Berkovic, Samuel F and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Eichler, Evan E and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Han, Yujun and Heinzen, Erin L and Hitomi, Yuki and Howell, Katherine B and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Lu, Yi-Fan and Madou, Maura R. Z and Marson, Anthony G and Mefford, Heather C and Esmaeeli Nieh, Sahar and O'Brien, Terence J and Ottman, Ruth and Petrovski, Slavé and Poduri, Annapurna and Ruzzo, Elizabeth K and Scheffer, Ingrid E and Sherr, Elliott H and Yuskaitis, Christopher J and Abou-Khalil, Bassel and Alldredge, Brian K and Bautista, Jocelyn F and Boro, Alex and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glynn, Simon and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack M and Park, Kristen and Shellhaas, Renée A and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Lin Thio, Liu and Venkat, Anu and Vining, Eileen P. G and Von Allmen, Gretchen K and Weisenberg, Judith L and Widdess-Walsh, Peter and Winawer, Melodie R and unav and Epi4K Consortium and Epilepsy Phenome/Genome Project
Nature (London), ISSN 1476-4687, 08/2013, Volume 501, Issue 7466, pp. 217 - 221
Journal Article
PLoS genetics, ISSN 1553-7404, 2010, Volume 6, Issue 5, pp. e1000962 - e1000962
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Epilepsy - genetics | Genetic Predisposition to Disease | Gene Dosage | Genome | Humans | Index Medicus | Studies | Autism | Pediatrics | Epilepsy | Classification | Schizophrenia | Genetics | Standard deviation | Genomes | Metabolic disorders
Journal Article
Nature genetics, ISSN 1546-1718, 01/2009, Volume 41, Issue 2, pp. 160 - 162