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ISSN 1553-7390, 2018
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with... 
Neurosciences | Epilepsy | Genomics | Genetics
Journal Article
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 | Brief Communication | Brief Communications
Journal Article
by Allen, Anew S and Berkovic, Samuel F and Bridgers, Joshua and Cossette, Patrick and Dlugos, Dennis and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Heinzen, Erin L and Jiang, Yu and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Marson, Anthony G and Mefford, Heather C and O'Brien, Terence J and Ottman, Ruth and Petrou, Steven and Petrovski, Slavé and Poduri, Annapurna and Ren, Zhong and Scheffer, Ingrid E and Sherr, Elliott and Wang, Quanli and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna A and Klein, Karl Martin and Koeleman, Bobby|info:eu-repo/dai/nl/157197468 and Komarek, Vladimir and Krause, Roland 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 Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay M and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne G and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alledge, Brian K and Amrom, Dina and Andermann, Eva and Andermann, Frederick and Bautista, Jocelyn F and Bluvstein, Judith and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel E and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Joshi, Sucheta and Kanner, Anes and Kirsch, Heidi E 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 and Park, Kristen and Shellhaas, Renée A and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Thio, Liu Lin and Venkat, Anu and Vining, Eileen P. G and ... and Epi4K Consortium and Epilepsy Phenome Genome Project and EuroEPINOMICS- RES Consortium and EuroEPINOMICS-RES Consortium
European Journal of Human Genetics, ISSN 1018-4813, 06/2017, Volume 25, Issue 7, pp. 894 - 899
Journal Article
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