De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

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.

doi:10.1016/j.ajhg.2014.08.013

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies / 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.. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - STAMPA. - 95:(2014), pp. 360-370. [10.1016/j.ajhg.2014.08.013]

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Titolo:	De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
Autori:	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. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2014
Rivista:	AMERICAN JOURNAL OF HUMAN GENETICS
Handle:	http://hdl.handle.net/11567/854861
Appare nelle tipologie:	01.01 - Articolo su rivista

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