Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Authors: Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Goldstein, David B., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leech, Stephanie L., Leu, Costin, O'Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Depondti, Chantal, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Yiolanda, Christou, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias H., von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Bosselmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert H. W., Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joe, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Lino, Nobili, Amadori, Elisa, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry-Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Newton, Charles R. J. C., Kariuki, Symon M., Wagner, Ryan G., Owusu-Agyei, Seth, Cole, Andrew J., McGraw, Christopher M., Siena, S. Anthony, Davis, Lea, Hucks, Donald, Faucon, Annika, Wu, David, Abou-Khalil, Bassel W., Haas, Kevin, Taneja, Randip S., null, null

Contributors: İstanbul University Cerrahpaşa Institutional Repository, Collaborative, Epi25, Newton, CRJ, Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Lal, Dennis, Epi25 Collaborative, Montanucci L., Collins R. L., Niestroj L., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brünger T., Thomas R. H., Talkowski M., et al., von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin Georg, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne, Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Bosselmann, Christian, Kegele, Josua, Hengsbach, Christian, Motelow, Joshua E., Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Povysil, Gundula, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Dhindsa, Ryan S., Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Stanley, Kate E., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert H. W., Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joe, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Allen, Andrew S., Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Kwan, Patrick, Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Delanty, Norman, Goldstein, David B., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Feng, Yen-Chen Anne, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Lino, Nobili, Amadori, Elisa, Howrigan, Daniel P., Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Abbott, Liam E., Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Tashman, Katherine, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry-Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Cerrato, Felecia, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Cusick, Caroline, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Singh, Tarjinder, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I.-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Heyne, Henrike, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Dlugos, Dennis J., Byrnes, Andrea E., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Churchhouse, Claire, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Newton, Charles R. J. C., Kariuki, Symon M., Wagner, Ryan G., Owusu-Agyei, Seth, Cole, Andrew J., McGraw, Christopher M., Watts, Nick, Siena, S. Anthony, Davis, Lea, Hucks, Donald, Faucon, Annika, Wu, David, Abou-Khalil, Bassel W., Haas, Kevin, Taneja, Randip S., Solomonson, Matthew, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leech, Stephanie L., Leu, Costin, O'Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Depondti, Chantal, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Yiolanda, Christou, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias H., von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas

Source: Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature communications
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), p. 4392. Springer Nature 10.1038/s41467-023-39539-6 <http://dx.doi.org/10.1038/s41467-023-39539-6>
Nature communications., Berlin : Nature Portfolio, 2023, vol. 14, iss. 1, art. no. 4392, p. [1-19].
Nature Communications, vol 14, iss 1
Nature Communications 14, 4392 (2023). doi:10.1038/s41467-023-39539-6

Subject Terms: Temel Bilimler (SCI), DNA Copy Number Variations* Epilepsy* / genetics Genome-Wide Association Study Humans Phenotype Seizures, General Physics and Astronomy, Astronomi ve Astrofizik, Genel Biyokimya, Genetik ve Moleküler Biyoloji, Kimya, 16p13.11 Predispose, CHEMISTRY, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Medical Specialties, Medicine and Health Sciences, GWAS, ASTRONOMY & ASTROPHYSICS, SPACE SCIENCE, Temel Bilimler, Physics, Variants, Life Sciences, Chromosomal Microarray, Structural Variation, 3. Good health, MOLECULAR BIOLOGY & GENETICS, Chemistry, Phenotype, Neurology, Natural Sciences (SCI), Physical Sciences, Position Paper, Natural Sciences, Generalized Epilepsy, BIOCHEMISTRY & MOLECULAR BIOLOGY, Engineering sciences. Technology, Sitogenetik, Risk, DNA Copy Number Variations, Uzay bilimi, Science, Life Sciences (LIFE), Molecular Biology and Genetics, 610 Medicine & health, Fizik, General Biochemistry, Genetics and Molecular Biology, Article, Seizures, ASTRONOMİ VE ASTROFİZİK, Spectrum, Yaşam Bilimleri, 15q13.3 Microdeletions, Humans, Cytogenetic, copy number variants, seizure, genome wide, Ilae Commission, Moleküler Biyoloji ve Genetik, Epilepsy, Astronomy and Astrophysics, General Chemistry, Genel Fizik ve Astronomi, Genel Kimya, Fizik Bilimleri, Yaşam Bilimleri (LIFE), Human medicine, Genome-Wide Association Study

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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study: an exome-based case-control study

Authors: May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina, Knaus, Julia, de Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian, Reid, Christopher, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram, Weber, Yvonne, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl, Rosenow, Felix, Nguyen, Dang, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme, Auce, Pauls, Francis, Ben, Johnson, Michael, Marson, Anthony, Berghuis, Bianca, Sander, Josemir, Avbersek, Andreja, Mccormack, Mark, Cavalleri, Gianpiero, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, Leguern, Eric, Serratosa, Jose, Koeleman, Bobby, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, de Jonghe, Peter, Arfan Ikram, M, Ferlazzo, Edoardo, Di Bonaventura, Carlo, La Neve, Angela, Tinuper, Paolo, Bisulli, Francesca, Vignoli, Aglaia, Capovilla, Giuseppe, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Langley, Sarah, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah, Hengsbach, Christian, Sonsma, Anja C.M.

Contributors: DSpace at Acıbadem, Wellcome Trust, Commission of the European Communities, Imperial College Healthcare NHS Trust- BRC Funding, Epicure Consortium, EuroEPINOMICS COGIE Consortium, EpiPGX Consortium, CESTELE, Sandrine

Source: LANCET NEUROLOGY
The lancet neurology
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology

Subject Terms: GAMMA-2-SUBUNIT, 0301 basic medicine, Adult, Male, EMC NIHES-01-64-01, Adolescent, International Cooperation, Clinical Neurology, 15Q13.3 MICRODELETIONS, ABSENCE EPILEPSY, SEQUENCE DATA, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Humans, EPILEPTIC ENCEPHALOPATHIES, Genetic Predisposition to Disease, Child, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, neurology (clinical), Aged, RISK, Aged, 80 and over, Family Health, Science & Technology, FEBRILE SEIZURES, Neurology & Neurosurgery, Infant, Newborn, Genetic Variation, Infant, 1103 Clinical Sciences, MOUSE MODEL, Middle Aged, 3. Good health, [SDV] Life Sciences [q-bio], Europe, ASSOCIATION ANALYSIS, DE-NOVO MUTATIONS, Case-Control Studies, Child, Preschool, EMC MM-01-39-09-A, Epilepsy, Generalized, Female, Neurology (clinical), Human medicine, Neurosciences & Neurology, 1109 Neurosciences, Life Sciences & Biomedicine

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Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies : an exome-based case-control study

Authors: EPICURE Consortium, EuroEPINOMICS-CoGIE Consortium, EpiPGX Consortium

Contributors: Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Medicum, Research Programme for Molecular Neurology, Research Programs Unit, Neuroscience Center, University of Helsinki, Genomics of Neurological and Neuropsychiatric Disorders

Subject Terms: DE-NOVO MUTATIONS, EPILEPTIC ENCEPHALOPATHIES, ABSENCE EPILEPSY, 15Q13.3 MICRODELETIONS, ASSOCIATION ANALYSIS, FEBRILE SEIZURES, SEQUENCE DATA, MOUSE MODEL, RISK, GAMMA-2-SUBUNIT, Neurosciences, Neurology and psychiatry

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Relation: EuroEPINOMICS (European Science Foundation through national funding organisations), Epicure and EpiPGX (Sixth Framework Programme and Seventh Framework Programme of the European Commission), Research Unit FOR2715 (German Research Foundation and Luxembourg National Research Fund).; http://hdl.handle.net/10138/309565; 85049923895; 000439057500014

Availability: http://hdl.handle.net/10138/309565

Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype

Authors: Robin G. Morris, Michaelis Koutroumanidis, Mark P. Richardson, Fahmida A. Chowdhury, Lina Nashef, Robert D. C. Elwes

Source: Epilepsia. 55:835-840

Subject Terms: Adult, Male, DISORDERS, Endophenotypes, 15Q13.3 MICRODELETIONS, Neuropsychological Tests, Executive Function, 03 medical and health sciences, WORKING-MEMORY, 0302 clinical medicine, Neuropsychology, Genetics, Humans, Attention, Family, JUVENILE MYOCLONIC EPILEPSY, 10. No inequality, Epilepsy, Brain, Electroencephalography, CLINICAL-APPLICATION, 3. Good health, Endophenotype, Memory, Short-Term, Case-Control Studies, SEIZURES, Epilepsy, Generalized, Female, Cognition Disorders, TRAITS

Access URL: https://pubmed.ncbi.nlm.nih.gov/24702672
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12604
https://onlinelibrary.wiley.com/doi/10.1111/epi.12604
https://www.ncbi.nlm.nih.gov/pubmed/24702672
https://core.ac.uk/display/29938788
http://europepmc.org/abstract/MED/24702672
https://pubmed.ncbi.nlm.nih.gov/24702672/

Epi4K: Gene discovery in 4,000 genomes

Authors: Berkovic, S, Cossette, P, Delanty, N, Dlugos, D, Eichler, E, Epstein, M, Glauser, T, Goldstein, D, Heinzen, E, Johnson, MR, Kuzniecky, R, Lowenstein, D, Marson, T, Mefford, H, O'Brien, T, Ottman, R, Poduri, A, Scheffer, I, Sherr, E, Shianna, K

Source: Epilepsia

Subject Terms: INFANTILE SPASMS, SUSCEPTIBILITY LOCI, DNA Copy Number Variations, Clinical Neurology, 15Q13.3 MICRODELETIONS, Epileptic encephalopathies, 16P13.11 PREDISPOSE, 03 medical and health sciences, 0302 clinical medicine, RISK-FACTOR, Genetics, Sequencing, Humans, Genetic Predisposition to Disease, National Institute of Neurological Disorders and Stroke (U.S.), Special Report, Genetic Association Studies, COPY NUMBER VARIANTS, Epi4K Consortium, Genome, Science & Technology, Copy number variants, Neurology & Neurosurgery, Epilepsy, Genome, Human, FAMILY QUARTET, 1103 Clinical Sciences, Prognosis, United States, 3. Good health, ASSOCIATION ANALYSIS, Genes, Phenotyping, BRD2 RING3, National Institute of Neurological Disorders and Stroke, Neurosciences & Neurology, IDIOPATHIC GENERALIZED EPILEPSY, 1109 Neurosciences, Life Sciences & Biomedicine, Human

Access URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1528-1167.2012.03511.x
https://pubmed.ncbi.nlm.nih.gov/22642626
http://hdl.handle.net/10044/1/75840

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Authors: Massimo Pandolfo, Kristen N. Linney, Anne-Mari Kantanen, Rodney A. Radtke, Raymond L. Stallings, Bernhard J. Steinhoff, William Gallentine, Sanjay M. Sisodiya, Thomas Dorn, Marcos Ortega, Sarah K. Tate, Dongliang Ge, Gianpiero L. Cavalleri, Jörg Hansen, Kenneth D. Cronin, John S. Duncan, Patrick G. Buckley, Aatif M. Husain, Jason Smith, Rachel A. Gibson, Marvin Johnson, Kai Eriksson, Erin L. Heinzen, Luis O. Caboclo, Colin P. Doherty, Mohamad A. Mikati, Norman Delanty, Lefkos T. Middleton, Anna C. Need, Kevin V. Shianna, Nicole M. Walley, David Goldstein, Paul M. Matthews, Reetta Kälviäinen, Chantal Depondt, Julie Huxley-Jones, Claudia B. Catarino, Josemir W. Sander, Jessica M. Maia, Dominik Zumsteg, Nicholas W. Wood, Thomas J. Urban, David Leppert, David A. Hosford, Paola Nicoletti, Lisa M. S. Clayton, Dalia Kasperaviciūte, Mihai V. Podgoreanu, Günter Krämer, Heinz Gregor Wieser, Curtis Gumbs

Contributors: University of Zurich, Sisodiya, S M

Source: American journal of human genetics, 86 (5

Subject Terms: 2716 Genetics (clinical), Idiopathic generalized epilepsy, 610 Medicine & health, mental retardation, 03 medical and health sciences, 0302 clinical medicine, 1311 Genetics, Genetics, febrile seizures, Humans, Genetics(clinical), genes, schizophrenia, mental retardation, Sequence Deletion, Epilepsy, association, Nucleic Acid Hybridization, Syndrome, Sciences bio-médicales et agricoles, 10040 Clinic for Neurology, 3. Good health, schizophrenia, 15q13.3 microdeletions, lateral temporal epilepsy, childhood absence epilepsy, Mutation, Disease Susceptibility, mutation, Chromosomes, Human, Pair 16

File Description: 1 full-text file(s): application/pdf; application/pdf; Rare_Deletions_V.pdf - application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/20398883
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869004/
https://pubmed.ncbi.nlm.nih.gov/20398883/
https://www.cabdirect.org/abstracts/20103189563.html
http://www.tara.tcd.ie/bitstream/handle/2262/73953/1-s2.0-S0002929710001631-main.pdf%3bsequence=1
https://core.ac.uk/display/11276151
http://discovery.ucl.ac.uk/140236/
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/58288
https://discovery-pp.ucl.ac.uk/id/eprint/140236/
https://hdl.handle.net/2262/73953
http://www.scopus.com/inward/record.url?eid=2-s2.0-77952096810&partnerID=40&md5=82a7b157a589ceeb89fa323c23c1ddb1
https://www.zora.uzh.ch/id/eprint/43376/
https://doi.org/10.5167/uzh-43376

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Authors: Leblond, Claire S., Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsater, Henrik, Nygren, Gudrun, Gillberg, I. Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemiere, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P., Jarvela, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A., Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M., Poustka, Fritz, Freitag, Christine M., Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F., Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W., Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Francoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M., Bourgeron, Thomas

Contributors: Department of Medical and Clinical Genetics

Subject Terms: COPY-NUMBER VARIATION, SCAFFOLDING PROTEIN SHANK3, HIDDEN-MARKOV MODEL, SNP GENOTYPING DATA, DE-NOVO MUTATIONS, MENTAL-RETARDATION, POSTSYNAPTIC DENSITY, RECURRENT MICRODELETIONS, 15Q13.3 MICRODELETIONS, PSYCHIATRIC-DISORDERS, Biomedicine

File Description: application/pdf

Relation: http://hdl.handle.net/10138/162533; 84859066832; 000300725500037

Availability: http://hdl.handle.net/10138/162533

Chapter 13 - Exploring 15q13.3 copy number variants in iPSCs

Authors: Gillentine, Madelyn A.

Source: In Current Topics in iPSCs Technology 2022:333-360

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Authors: Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G., Trenite, Dorothee Kasteleijn-Nolst, Sonsma, Anja C. M., Koeleman, Bobby P., Lindhout, Dick, Weber, Yvonne G., Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M., Rosenow, Felix, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Moller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nuernberg, Peter, Sander, Thomas, EPICURE Consortium

Contributors: Genetica Klinische Genetica, Brain, Genetica

Subject Terms: AUTISM SPECTRUM DISORDER, COPY NUMBER VARIANTS, GENOME-WIDE ASSOCIATION, OF-FUNCTION MUTATIONS, EPILEPTIC ENCEPHALOPATHY, DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, 15Q13.3 MICRODELETIONS, 16P13.11 PREDISPOSE, COMMON EPILEPSIES, Journal Article, Research Support, Non-U.S. Gov't

File Description: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/331677

Availability: https://dspace.library.uu.nl/handle/1874/331677

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Authors: Heinzen, EL, Radtke, RA, Urban, TJ, Cavalleri, GL, Depondt, C, Need, AC, Walley, NM, Nicoletti, P, Ge, DL, Catarino, CB, Duncan, JS, Kasperaviciute, D, Tate, SK, Caboclo, LO, Sander, JW, Clayton, L, Linney, KN, Shianna, KV, Gumbs, CE, Smith, J, Cronin, KD, Maia, JM, Doherty, CP, Pandolfo, M, Leppert, D, Middleton, LT, Gibson, RA, Johnson, MR, Matthews, PM, Hosford, D, Kalviainen, R, Eriksson, K, Kantanen, AM, Dorn, T, Hansen, J, Kramer, G, Steinhoff, BJ, Wieser, HG, Zumsteg, D, Ortega, M, Wood, NW, Huxley-Jones, J, Mikati, M, Gallentine, WB, Husain, AM, Buckley, PG, Stallings, RL, Podgoreanu, MV, Delanty, N, Sisodiya, SM, Goldstein, DB

Source: The American Journal of Human Genetics , 86 (5) 707 - 718. (2010)

Subject Terms: Idiopathic generalized epilepsy, childhood absence epilepsy, lateral temporal epilepsy, febrile seizures, 15q13.3 microdeletions, mutation, schizophrenia, association, genes

File Description: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/140236/

Availability: https://discovery.ucl.ac.uk/id/eprint/140236/1/1-s2.0-S0002929710001631-main.pdf
https://discovery.ucl.ac.uk/id/eprint/140236/

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

Authors: Scheffer, Ingrid E., Berkovic, Samuel, Capovilla, Giuseppe, Connolly, Mary B., French, Jacqueline, Guilhoto, Laura, Hirsch, Edouard, Jain, Satish, Mathern, Gary W., Moshe, Solomon L., Nordli, Douglas R., Perucca, Emilio, Tomson, Torbjoern, Wiebe, Samuel, Zhang, Yue-Hua, Zuberi, Sameer M.

Contributors: Scheffer, IE (reprint author), Epilepsy Res Ctr, 245 Burgundy St, Heidelberg, Vic 3084, Australia., Univ Melbourne, Dept Med, Austin Hlth, Melbourne, Vic, Australia., Univ Melbourne, Dept Paediat, Royal Childrens Hosp, Melbourne, Vic, Australia., Florey Inst, Melbourne, Vic, Australia., C Poma Hosp, Child Neuropsychiat Dept, Epilepsy Ctr, Mantua, Italy., Univ British Columbia, Dept Pediat, British Columbias Childrens Hosp, Vancouver, BC, Canada., NYU, Dept Neurol, Sch Med, New York, NY 10016 USA., Univ Fed Sao Paulo, Dept Neurol, Sao Paulo, Brazil., Univ Sao Paulo, Univ Hosp, Sao Paulo, Brazil., Univ Hosp, INSERM, U 964, Strasbourg, France., IDEE, Lyon, France., Indian Epilepsy Ctr, New Delhi, India., Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurosurg, Los Angeles, CA 90095 USA., Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat & Biobehav Med, Los Angeles, CA 90095 USA., Albert Einstein Coll Med, Saul R Korey Dept Neurol, Dominick P Purpura Dept Neurosci, Bronx, NY 10467 USA., Albert Einstein Coll Med, Dept Pediat, Bronx, NY 10467 USA., Montefiore Med Ctr, 111 E 210th St, Bronx, NY 10467 USA., Childrens Hosp Los Angeles, Div Neurol, Los Angeles, CA 90027 USA., Univ Pavia, C Mondino Natl Neurol Inst, Pavia, Italy., Univ Pavia, Clin Pharmacol Unit, Pavia, Italy., Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden., Univ Calgary, Dept Clin Neurosci, Calgary, AB, Canada., Univ Calgary, Dept Community Hlth Sci, Calgary, AB, Canada., Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China., Royal Hosp Children, Paediat Neurosci Res Grp, Fraser Allander Neurosci Unit, Glasgow, Lanark, Scotland., Univ Glasgow, Sch Med, Glasgow, Lanark, Scotland., Epilepsy Res Ctr, 245 Burgundy St, Heidelberg, Vic 3084, Australia.

Source: SCI

Subject Terms: Classification, Epilepsy syndromes, Terminology, Etiology, IDIOPATHIC GENERALIZED EPILEPSY, DE-NOVO MUTATIONS, ETIOLOGIC CLASSIFICATION, 15Q13.3 MICRODELETIONS, LANGUAGE DYSFUNCTION, ONSET EPILEPSY, LOBE EPILEPSY, SEIZURES, ENCEPHALOPATHIES, ORGANIZATION

Relation: 1908612; http://hdl.handle.net/20.500.11897/474263; WOS:000398861000007

Availability: https://hdl.handle.net/20.500.11897/474263
https://doi.org/10.1111/epi.13709

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Authors: Leblond, Claire, Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Gillberg, I Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P, Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David, Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine, Poustka, Fritz, Freitag, Christine, Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana, Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen, Zelenika, Diana, Délépine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias, Bourgeron, Thomas

Contributors: Betancur, Catalina, Génétique Humaine et Fonctions Cognitives, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Universität Ulm - Ulm University Ulm, Allemagne, Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Child and Adolescent Psychiatry, Göteborgs Universitet = University of Gothenburg (GU), Forensic Psychiatry, Skane University Hospital Lund, Department of Pharmacology, Génotypage des Eucaryotes (Plate-Forme), Institut Pasteur Paris (IP), Behavioural and Brain Sciences Unit, Institute of Child Health, University College of London London (UCL), University Medical Center Utrecht (UMCU), The Wellcome Trust Centre for Human Genetics Oxford, University of Oxford, Department of Medical and Clinical Genetics Helsinki, Haartman Institute Helsinki, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Academic Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King‘s College London, Social, Genetic and Developmental Psychiatry Centre (SGDP), Institute of psychiatry, Division of Molecular Genome Analysis, German Cancer Research Center - Deutsches Krebsforschungszentrum Heidelberg (DKFZ), Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe-Universität Frankfurt am Main, Department of Pharmacy and Biotechnology, Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), Institute of Biotechnology, Department of Psychiatry and Behavioral Sciences Stanford, Stanford Medicine, Stanford University-Stanford University, Division of Child Neurology and Psychiatry, Department of Paediatrics, Università degli studi di Catania = University of Catania (Unict), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), BioFIG, Center for Biodiversity, Functional and Integrative Genomics, Unidade de Neurodesenvolvimento e Autismo (UNDA), Hospital Pediatrico de Coimbra, Human Genetics Center, The University of Texas Health Science Center at Houston (UTHealth), The Centre for Applied Genomics, Toronto, The Hospital for sick children Toronto (SickKids)-University of Toronto-Department of Molecular Genetics-McLaughlin Centre, Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire Intégrée (BNVI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité Pédopsychiatrique et Neuropédiatrique de Diagnostic et d'Evaluation des Troubles Envahissants du Développement, Centre Alpin de DIagnostic Précoce de l'Autisme - CADIPA-Centre Hospitalier Alpes Isère Grenoble, France (CH Alpes Isere), Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-Hôpital Couple-Enfant, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institute for Anatomy and Cell Biology, Leblond, C, Heinrich, J, Delorme, R, Proepper, C, Betancur, C, Huguet, G, Konyukh, M, Chaste, P, Ey, E, Rastam, M, Anckarsater, H, Nygren, G, Gillberg, Ic, Melke, J, Toro, R, Regnault, B, Fauchereau, F, Mercati, O, Lemiere, N, Skuse, D, Poot, M, Holt, R, Monaco, Ap, Jarvela, I, Kantojarvi, K, Vanhala, R, Curran, S, Collier, Da, Bolton, P, Chiocchetti, A, Klauck, Sm, Poustka, F, Freitag, Cm, Waltes, R, Kopp, M, Duketis, E, Bacchelli, E, Minopoli, F, Ruta, L, Battaglia, A, Mazzone, L, Maestrini, E, Sequeira, Af, Oliveira, B, Vicente, A, Oliveira, G, Pinto, D, Scherer, Sw, Zelenika, D, Delepine, M, Lathrop, M, Bonneau, D, Guinchat, V, Devillard, F, Assouline, B, Mouren, M, Leboyer, M, Gillberg, C, Boeckers, Tm, Bourgeron, T

Source: PLoS Genet
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
PLoS Genetics; 8(2) (2012)
Leblond, C S, Heinrich, J, Delorme, R, Proepper, C, Betancur, C, Huguet, G, Konyukh, M, Chaste, P, Ey, E, Rastam, M, Anckarsater, H, Nygren, G, Gillberg, I C, Melke, J, Toro, R, Regnault, B, Fauchereau, F, Mercati, O, Lemiere, N, Skuse, D, Poot, M, Holt, R, Monaco, A P, Jarvela, I, Kantojarvi, K, Vanhala, R, Curran, S, Collier, D A, Bolton, P, Chiocchetti, A, Klauck, S M, Poustka, F, Freitag, C M, Waltes, R, Kopp, M, Duketis, E, Bacchelli, E, Minopoli, F, Ruta, L, Battaglia, A, Mazzone, L, Maestrini, E, Sequeira, A F, Oliveira, B, Vicente, A, Oliveira, G, Pinto, D, Scherer, S W, Zelenika, D, Delepine, M, Lathrop, M, Bonneau, D, Guinchat, V, Devillard, F, Assouline, B, Mouren, M-C, Leboyer, M, Gillberg, C, Boeckers, T M & Bourgeron, T 2012, ' Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders ', PL o S Genetics, vol. 8, no. 2, e1002521 . https://doi.org/10.1371/journal.pgen.1002521

Subject Terms: Male, 0301 basic medicine, alpha7 Nicotinic Acetylcholine Receptor, MESH: Neurons, Gene Dosage, MESH: RNA Splice Sites, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Protein Isoforms, QH426-470, Receptors, Nicotinic, Nicotinic, MESH: Gene Dosage, MESH: Synapses, MESH: Child, Receptors, MESH: Receptors, Protein Isoforms, Tissue Distribution, MESH: Nerve Tissue Proteins, Child, Sequence Deletion, Psychiatry, Neurons, ddc:610, 0303 health sciences, MESH: Alternative Splicing, Adaptor Proteins, MESH: Sequence Deletion, Synapse, MESH: Gene Expression Regulation, 3. Good health, RNA Splice Site, Child, Preschool, Female, Adaptor Proteins, Signal Transducing, Adult, Alternative Splicing, Cell Line, Child Development Disorders, Pervasive, Gene Expression Regulation, Humans, Nerve Tissue Proteins, RNA Splice Sites, Synapses, Human, Research Article, Child Development Disorders, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genetics, MESH: Tissue Distribution, Preschool, Pervasive, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, COPY-NUMBER VARIATION, SCAFFOLDING PROTEIN SHANK3, SNP GENOTYPING DATA, DE-NOVO MUTATIONS, POSTSYNAPTIC DENSITY, AUTISM, 15Q13.3 MICRODELETIONS, Signal Transducing, Protein Isoform, MESH: Adult, Neuron, MESH: Male, MESH: Cell Line, Nerve Tissue Protein, MESH: Child Development Disorders, MESH: Adaptor Proteins, MESH: Female

File Description: application/pdf; application/octet-stream

Access URL: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002521&type=printable
https://pubmed.ncbi.nlm.nih.gov/22346768
https://doaj.org/article/03767000fd224a4884ce09193bcfd6c7
https://hal-lirmm.ccsd.cnrs.fr/RIIP_PARIS/inserm-00834560v1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276563/figure/pgen-1002521-g004/
https://portal.research.lu.se/ws/files/1926097/2858539.pdf
https://moh-it.pure.elsevier.com/en/publications/genetic-and-functional-analyses-of-shank2-mutations-suggest-a-mul
https://www.lunduniversity.lu.se/lup/publication/48f13ffc-2109-40e9-9004-b0a835f24db6
https://portal.research.lu.se/portal/en/publications/genetic-and-functional-analyses-of-shank2-mutations-suggest-a-multiple-hit-model-of-autism-spectrum-disorders(48f13ffc-2109-40e9-9004-b0a835f24db6).html
https://lup.lub.lu.se/record/2384371
http://hdl.handle.net/10316/109915
https://kclpure.kcl.ac.uk/en/publications/2af61bb7-01dd-4de1-8bd9-0b9acabd8041
https://kclpure.kcl.ac.uk/portal/en/publications/2af61bb7-01dd-4de1-8bd9-0b9acabd8041

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

Authors: Jiang, Yuwu, Zhang, Yuehua, Zhang, Pingping, Sang, Tian, Zhang, Feng, Ji, Taoyun, Huang, Qionghui, Xie, Han, Du, Renqian, Cai, Bin, Zhao, Haijuan, Wang, Jingmin, Wu, Ye, Wu, Husheng, Xu, Keming, Liu, Xiaoyan, Chan, Piu, Wu, Xiru

Contributors: Wu, XR (reprint author), Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China., Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China., Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China., CapitalBio Corp, Natl Engn Res Ctr Beijing Biochip Technol, Beijing, Peoples R China., Beijing Childrens Hosp, Beijing, Peoples R China., Capital Inst Pediat, Beijing, Peoples R China., Capital Med Univ, Xuanwu Hosp, Dept Neurobiol & Neurol, Beijing 100053, Peoples R China.

Source: PubMed ; SCI

Subject Terms: IDIOPATHIC GENERALIZED EPILEPSIES, 15Q13.3 MICRODELETIONS, SYNAPTIC TRANSMISSION, MENTAL-RETARDATION, INCREASE RISK, IN-VITRO, DISORDERS, MAGNESIUM, SEIZURES, REARRANGEMENTS

Relation: 661175; http://hdl.handle.net/20.500.11897/160161; WOS:000305195400020

Availability: https://hdl.handle.net/20.500.11897/160161
https://doi.org/10.1007/s00439-012-1149-3

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Authors: University of Helsinki, Department of Medical Genetics, University of Helsinki, Hospital for Children and Adolescents, Leblond, Claire S., Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsater, Henrik, Nygren, Gudrun, Gillberg, I. Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemiere, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P., Jarvela, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A., Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M., Poustka, Fritz, Freitag, Christine M., Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F., Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W., Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Francoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M., Bourgeron, Thomas

Source: Leblond , C S , Heinrich , J , Delorme , R , Proepper , C , Betancur , C , Huguet , G , Konyukh , M , Chaste , P , Ey , E , Rastam , M , Anckarsater , H , Nygren , G , Gillberg , I C , Melke , J , Toro , R , Regnault , B , Fauchereau , F , Mercati , O , Lemiere , N , Skuse , D , Poot , M , Holt , R , Monaco , A P , Jarvela , I , Kantojärvi , K , Vanhala , R , Curran , S , Collier , D A , Bolton , P , Chiocchetti , A , Klauck , S M , Poustka , F , Freitag , C M , Waltes , R , Kopp , M , Duketis , E , Bacchelli , E , Minopoli , F , Ruta , L , Battaglia , A , Mazzone , L , Maestrini , E , Sequeira , A F , Oliveira , B , Vicente , A , Oliveira , G , Pinto , D , Scherer , S W , Zelenika , D , Delepine , M , Lathrop , M , Bonneau , D , Guinchat , V , Devillard , F , Assouline , B , Mouren , M-C , Leboyer , M , Gillberg , C , Boeckers , T M & Bourgeron , T 2012 , ' Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders ' PLoS Genetics , vol 8 , no. 2 , pp. e1002521 . DOI: 10.1371/journal.pgen.1002521

Index Terms: COPY-NUMBER VARIATION, SCAFFOLDING PROTEIN SHANK3, HIDDEN-MARKOV MODEL, SNP GENOTYPING DATA, DE-NOVO MUTATIONS, MENTAL-RETARDATION, POSTSYNAPTIC DENSITY, RECURRENT MICRODELETIONS, 15Q13.3 MICRODELETIONS, PSYCHIATRIC-DISORDERS, 3111 Biomedicine, A1 Refereed journal article, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: http://hdl.handle.net/10138/162533
PLoS Genetics