De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Authors: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

Source: In The American Journal of Human Genetics 2 October 2014 95(4):360-370

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population

Authors: Pouya, Ali Reza, Abedini, Seyedeh Sedigheh, Mansoorian, Neda, Behjati, Farkhondeh, Nikzat, Nooshin, Mohseni, Marzieh, Nieh, Sahar Esmaeeli, Abbasi Moheb, Lia, Darvish, Hossein, Monajemi, Gholamreza Bahrami, Banihashemi, Susan, Kahrizi, Kimia, Ropers, Hans Hilger, Najmabadi, Hossein

Source: In European Journal of Medical Genetics 2009 52(4):170-173

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria.

Authors: Sajan, Samin A.¹, Fernandez, Liliana², Nieh, Sahar Esmaeeli², Rider, Eric², Bukshpun, Polina², Wakahiro, Mari², Christian, Susan L.³, Rivière, Jean-Baptiste⁴, Sullivan, Christopher T.³, Sudi, Jyotsna⁵, Herriges, Michael J.⁶, Paciorkowski, Alexander R.⁷, Barkovich, A. James⁸, Glessner, Joseph T.⁹, Millen, Kathleen J.^3,10, Hakonarson, Hakon^9,11, Dobyns, William B.^3,10,12, Sherr, Elliott H.², SherrE@neuropeds.ucsf.edu

Source: PLoS Genetics; Oct2013, Vol. 9 Issue 10, p1-16, 16p

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Authors: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

Source: In The American Journal of Human Genetics 5 January 2017 100(1):179-179

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A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Authors: Motazacker, Mohammad Mahdi, Rost, Benjamin Rainer, Hucho, Tim, Garshasbi, Masoud, Kahrizi, Kimia, Ullmann, Reinhard, Abedini, Seyedeh Sedigheh, Nieh, Sahar Esmaeeli, Amini, Saeid Hosseini, Goswami, Chandan, Tzschach, Andreas, Jensen, Lars Riff, Schmitz, Dietmar, Ropers, Hans Hilger, Najmabadi, Hossein, Kuss, Andreas Walter

Source: In The American Journal of Human Genetics 2007 81(4):792-798

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Authors: Masoud Garshasbi, Motazacker, Mohammad Mahdi, Kahrizi, Kimia, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Nieh, Sahar Esmaeeli, Firouzabadi, Saghar Ghasemi, Becker, Christian, Rüschendorf, Franz, Nürnberg, Peter, Tzschach, Andreas, Vazifehmand, Reza, Erdogan, Fikret, Ullmann, Reinhard, Lenzner, Steffen, Kuss, Andreas W., Ropers, H. Hilger, Najmabadi, Hossein

Source: Human Genetics; Feb2006, Vol. 118 Issue 6, p708-715, 8p, 1 Black and White Photograph, 2 Diagrams, 2 Charts, 1 Graph

Subject Terms: INTELLECTUAL disabilities, PATIENTS, EXONS (Genetics), SPLIT genes, PROMOTERS (Genetics), GENES, CHROMOSOMES, GENETIC mutation, GENETIC research, HUMAN genetics