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clinical neurology (24) 24
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Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2013, Volume 1304, Issue 1, pp. 45 - 51
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 Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The 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 Epi4K Consortium and Epilepsy Phenome/Genome Project
Nature, ISSN 0028-0836, 2013, Volume 501, Issue 7466, pp. 217 - 221
Journal Article
by Allen, Andrew S and Bellows, Susannah T and Berkovic, Samuel F and Bridgers, Joshua and Burgess, Rosemary and Cavalleri, Gianpiero and Chung, Seo-Kyung and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Epstein, Michael P and Freyer, Catharine and Goldstein, David B and Heinzen, Erin L and Hildebrand, Michael S and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Marson, Anthony G and Mayeux, Richard and Mebane, Caroline and Mefford, Heather C and O'Brien, Terence J and Ottman, Ruth and Petrou, Steven and Petrovski, Slavgé and Pickrell, William O and Poduri, Annapurna and Radtke, Rodney A and Rees, Mark I and Regan, Brigid M and Ren, Zhong and Scheffer, Ingrid E and Sills, Graeme J and Thomas, Rhys H and Wang, Quanli and Abou-Khalil, Bassel and Alldredge, Brian K and Amrom, Dina and Andermann, Eva and Andermann, Frederick and Bautista, Jocelyn F and Bluvstein, Judith 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 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 Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack M and Park, Kristen and Sadleir, Lynette G and Shellhaas, Renée A and Sherr, Elliott H and Shih, Jerry J and Shinnar, Shlomo and Singh, Rani K and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Thio, Liu Lin 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 Epilepsy Phenome-Genome Proj and Epi4k Consortium and Epilepsy Phenome/Genome Project and Epi4K consortium
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 2, pp. 135 - 143
Summary Background Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional... 
Neurology | RISK | SEIZURES | CLINICAL NEUROLOGY | MUTATION | DISEASE | Epilepsy, Generalized - genetics | Exome | Genetic Variation | Genetic Predisposition to Disease | Humans | Epilepsies, Partial - genetics | Sequence Analysis, DNA | Case-Control Studies | Genetic research | Genetic aspects | Analysis | Epilepsy | Proteins | Studies | Disease | Genomes | Mutation | Family medical history | Patients | Index Medicus
Journal Article
Epilepsia, ISSN 0013-9580, 02/2009, Volume 50, Issue 2, pp. 195 - 205
Journal Article
by Allen, Andrew S and Berkovic, Samuel F and Coe, Bradley P and Cook, Joseph 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 Heinzen, Erin L and Johnson, Michael R and Krumm, Nik and Kuzniecky, Ruben and Lowenstein, Daniel H and Marson, Anthony G and Mefford, Heather C and Nelson, Ben and Esmaeeli Nieh, Sahar and O'Brien, Terence J and Ottman, Ruth and Petrou, Stephen and Petrovski, Slavé and Poduri, Annapurna and Raja, Archana and Ruzzo, Elizabeth K and Scheffer, Ingrid E and Sherr, Elliott 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 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 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 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 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 Epi4K Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project Epi4K Consortium
Annals of Neurology, ISSN 0364-5134, 08/2015, Volume 78, Issue 2, pp. 323 - 328
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor... 
RISK | AUTISM | DE-NOVO MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Humans | Parents | Child, Preschool | Infant | Male | Spasms, Infantile - genetics | Sequence Analysis, DNA | Lennox Gastaut Syndrome - genetics | DNA Copy Number Variations | Exome - genetics | Adult | Female | Infant, Newborn | Cohort Studies | Babies | Index Medicus | Brief Communication | Brief Communications
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 Amrom, 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 Epi4K Consortium and Epilepsy Phenome Genome Project and EuroEPINOMICS-Res Consortium and EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be and EuroEPINOMICS-RES Consortium and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 179 - 179
Journal Article