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21 results on '"Ronen, Gabriel M."'

1. Translating knowledge into action to prevent pediatric and adolescent diabesity: a meeting report

Author

Balakumaran,Janatani, Kao,Yun-Ya, Wang,Kuan-Wen, Ronen,Gabriel M., MacKillop,James, Thabane,Lehana, Samaan,M. Constantine, Balakumaran,Janatani, Kao,Yun-Ya, Wang,Kuan-Wen, Ronen,Gabriel M., MacKillop,James, Thabane,Lehana, and Samaan,M. Constantine

Abstract

Janatani Balakumaran,*,1,2 Yun-Ya Kao,*,1,2 Kuan-Wen Wang,1,2 Gabriel M Ronen,1 James MacKillop,3 Lehana Thabane,1,4–7 M Constantine Samaan1,2,41Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada; 2Division of Pediatric Endocrinology, McMaster Children’s Hospital, Hamilton, Ontario, Canada; 3Department of Psychiatry and Behavioural Neurosciences, Faculty of Health Sciences, Peter Boris Centre for Addictions Research, McMaster University/St. Joseph’s Healthcare Hamilton, Hamilton, Ontario, Canada; 4Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada; 5Department of Anesthesia, McMaster University, Hamilton, Ontario, Canada; 6Centre for Evaluation of Medicines, St. Joseph’s Health Care, Hamilton, Ontario, Canada; 7Biostatistics Unit, St Joseph’s Healthcare-Hamilton, Hamilton, Ontario, CanadaCorrespondence: M Constantine SamaanDepartment of Pediatrics, McMaster University, Division of Pediatric Endocrinology, McMaster Children’s Hospital, 1280 Main Street West, HSC-3A57, Hamilton, Ontario L8S 4K1, CanadaTel +1 905 521 2100 ext. 75926Fax +1 905 308 7548Email samaanc@mcmaster.ca*These authors contributed equally to this workBackground: The obesity and Type 2 Diabetes Mellitus (T2DM) rates are at an all-time high globally. This diabesity epidemic is increasingly impacting children and adolescents, and there is scarce evidence of interventions with favourable long-term outcomes.Purpose: In order to understand the determinants of diabesity and how to address them, multiple stakeholders were invited to a meeting to discuss current state of knowledge and to help design a program to prevent pediatric and adolescent diabesity.Participants and methods: The meeting was held at McMaster University on March 4th, 2015. The event involved presentations to deliver state-of-the-art knowledge about diabesity, and roundtable discussions of several domai

Published
2019

2. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Author

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nrnberg, Peter, Sander, Thomas, Balling, Rudi, Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nrnberg, Peter, Sander, Thomas, and Balling, Rudi

Abstract

Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment disappeared after removing ARE patients. For several disease-related gene-sets, an odds ratio >1 was detected for loss-of-function variants.

Published
2018

3. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Author

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nrnberg, Peter, Sander, Thomas, Balling, Rudi, Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nrnberg, Peter, Sander, Thomas, and Balling, Rudi

Abstract

Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment disappeared after removing ARE patients. For several disease-related gene-sets, an odds ratio >1 was detected for loss-of-function variants.

Published
2018

4. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, Silfhout, Anneke Vulto-van, Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van

Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 × 10−6, odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10−4). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE

Published
2017

5. Investigation of GRIN2A in common epilepsy phenotypes

Author

Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli, Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, and Sirén, Auli

Published
2015

6. Mutations in KCNT1 cause a spectrum of focal epilepsies

Author

Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M., Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, and Dibbens, Leanne M.

Published
2015

7. Investigation of GRIN2A in common epilepsy phenotypes

Author

Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli, Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, and Sirén, Auli

Published
2015

8. Mutations in KCNT1 cause a spectrum of focal epilepsies

Author

Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M., Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, and Dibbens, Leanne M.

Published
2015

9. Mutations in KCNT1 cause a spectrum of focal epilepsies

Author

Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M., Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, and Dibbens, Leanne M.

Published
2015

10. Investigation of GRIN2A in common epilepsy phenotypes

Author

Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli, Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, and Sirén, Auli

Published
2015

11. Investigation of GRIN2A in common epilepsy phenotypes

Author

Genetica Groep Koeleman, Circulatory Health, Child Health, Brain, Genetica Klinische Genetica, Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli, Genetica Groep Koeleman, Circulatory Health, Child Health, Brain, Genetica Klinische Genetica, Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, and Sirén, Auli

Published
2015

12. Mutations in KCNT1 cause a spectrum of focal epilepsies

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Brain, Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M., Genetica Sectie Genoomdiagnostiek, Child Health, Brain, Møller, Rikke S., Heron, Sarah E., Larsen, Line H G, Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Van Kempen, Marjan J A, Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, and Dibbens, Leanne M.

Published
2015

13. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A., Zimprich, Fritz, Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A., and Zimprich, Fritz

Abstract

Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE.

Published
2014

14. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, and Neubauer, Bernd A.

Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 x 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 3 10(-4)). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE.

Published
2014

15. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A., Zimprich, Fritz, Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A., and Zimprich, Fritz

Abstract

Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE.

Published
2014

16. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, and Neubauer, Bernd A.

Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 x 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 3 10(-4)). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE.

Published
2014

19. From eugenic euthanasia to habilitation of 'disabled' children: Andreas Rett's contribution

Author

Ronen, Gabriel M, Meaney, Brandon, Dan, Bernard, Zimprich, Fritz, Stögmann, Walter, Neugebauer, Wolfgang, Ronen, Gabriel M, Meaney, Brandon, Dan, Bernard, Zimprich, Fritz, Stögmann, Walter, and Neugebauer, Wolfgang

Abstract

Although the name of Andreas Rett is familiar to many from his eponymous neurogenetic syndrome, his other achievements involving the care of disabled children deserve special attention. His tireless advocacy helped to bring fundamental changes in the medical and societal attitude toward disabled individuals in a city that had recently seen more than 7500 disabled children and inmates of psychiatric hospitals actively euthanized by National Socialist (Nazi) decree. Most notably, this study demonstrates the remarkable changes that can be achieved single-handedly by a vocal and energetic physician. Yet at the same time, several instances are recorded in which Rett appeared to prioritize his own professional advancement at the expense of truthful disclosure of his own past, as well as that of some of his close associates. Dr Rett's professional life and contributions, now 10 years after his death, presents a compelling object lesson for neurologists and others involved in the care of the disabled., Biography, Historical Article, Journal Article, Portraits, info:eu-repo/semantics/published

Published
2009

20. From eugenic euthanasia to habilitation of 'disabled' children: Andreas Rett's contribution

Author

Ronen, Gabriel M, Meaney, Brandon, Dan, Bernard, Zimprich, Fritz, Stögmann, Walter, Neugebauer, Wolfgang, Ronen, Gabriel M, Meaney, Brandon, Dan, Bernard, Zimprich, Fritz, Stögmann, Walter, and Neugebauer, Wolfgang

Abstract

Although the name of Andreas Rett is familiar to many from his eponymous neurogenetic syndrome, his other achievements involving the care of disabled children deserve special attention. His tireless advocacy helped to bring fundamental changes in the medical and societal attitude toward disabled individuals in a city that had recently seen more than 7500 disabled children and inmates of psychiatric hospitals actively euthanized by National Socialist (Nazi) decree. Most notably, this study demonstrates the remarkable changes that can be achieved single-handedly by a vocal and energetic physician. Yet at the same time, several instances are recorded in which Rett appeared to prioritize his own professional advancement at the expense of truthful disclosure of his own past, as well as that of some of his close associates. Dr Rett's professional life and contributions, now 10 years after his death, presents a compelling object lesson for neurologists and others involved in the care of the disabled., Biography, Historical Article, Journal Article, Portraits, info:eu-repo/semantics/published

Published
2009

21. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, Silfhout, Anneke Vulto-van, Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van

Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 × 10−6, odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10−4). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE

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