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1. Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

Author

Afawi, Zaid, Amrom, Dina, Andermann, Eva, Bautista, Jocelyn F., Bellows, Susannah T., Bluvstein, Judith, Cascino, Gregory D., Chung, Seo-Kyung, Cossette, Patrick, Curtis, Sarah W., Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Freyer, Catharine, Gravel, Micheline, Harris, Rebekah V., Heinzen, Erin L., Henry, Olivia J., Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Loeb, Rebecca, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Motika, Paul V., O'Brien, Terence J., Ottman, Ruth, Paolicchi, Juliann M., Petrovski, Slave, Pickrell, William O., Rees, Mark I., Sadleir, Lynette G., Shih, Jerry J., Singh, Rani K., Smith, Michael C., Smith, Philip E.M., Thomas, Rhys H., Weisenberg, Judith, Widdess-Walsh, Peter, Winawer, Melodie R., Oliver, Karen L., Scheffer, Ingrid E., Ellis, Colin A., Grinton, Bronwyn E., Berkovic, Samuel F., and Bahlo, Melanie

Published
2024
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5. A perfect storm: An archaeological management crisis in the Mississippi River Delta

Author

Britt, Tad, Watt, David J., Rees, Mark, Konsoer, Kory, and Huey, Samuel M.

Subjects
Climate Change
Abstract

Engineered projects resulting in unintended consequences, coastal erosion, subsidence, and sea-level rise are rapidly destroying archaeological sites in the Mississippi River Delta (MRD). The processes of site obliteration are intensifying and accelerating due to anthropogenic transformation of the environment, including cumulative engineered alterations of the landscape and climate change. Combined with increased inundation and erosion from storm surges, hundreds of terrestrial sites formerly located on natural levees, barrier islands, and other coastal landforms are progressively eroded, redeposited, deeply buried, and submerged. These include thousand-year-old earthen mounds and shell middens constructed by Native Americans, as well as centuries-old fishing communities along the coast. These irreplaceable cultural properties can provide crucial information on the unique history and ecology of the MRD. Ongoing studies include consulting with interested parties and implementing data sharing agreements. Re- searchers have formed a consortium of universities and state and federal agencies, and are partnering with culturally affiliated Native American tribes, descendant groups, and coastal communities. The consortium is developing a robust GIS-enabled risk matrix for analyzing threats and effects to endangered sites. It is using the risk matrix to select 30 sites for monitoring, assessment, aerial photogrammetry, and recording environmental data on water table fluctuations. Analysis of action-based scientific data on these imperiled and rapidly disappearing places is urgently needed and will provide the impetus and baseline for future studies. Otherwise, ongoing site destruction will erase any remaining opportunities for learning about Louisiana’s deep history and diverse cultural heritage.

Published
2020

6. Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

Author

Abou‐Khalil, Bassel, Afawi, Zaid, Allen, Andrew S, Bautista, Jocelyn F, Bellows, Susannah T, Berkovic, Samuel F, Bluvstein, Judith, Burgess, Rosemary, Cascino, Gregory, Cossette, Patrick, Cristofaro, Sabrina, Crompton, Douglas E, Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Ellis, Colin A, Epstein, Michael P, Fountain, Nathan B, Freyer, Catharine, Geller, Eric B, Glauser, Tracy, Glynn, Simon, Goldberg‐Stern, Hadassa, Goldstein, David B, Gravel, Micheline, Haas, Kevin, Haut, Sheryl, Heinzen, Erin L, Kirsch, Heidi E, Kivity, Sara, Knowlton, Robert, Korczyn, Amos D, Kossoff, Eric, Kuzniecky, Ruben, Loeb, Rebecca, Lowenstein, Daniel H, Marson, Anthony G, McCormack, Mark, McKenna, Kevin, Mefford, Heather C, Motika, Paul, Mullen, Saul A, J. O'Brien, Terence, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack M, Paterson, Sarah, Petrou, Steven, Petrovski, Slavé, Owen Pickrell, William, Poduri, Annapurna, Rees, Mark I, Sadleir, Lynette G, Scheffer, Ingrid E, Shih, Jerry, Singh, Rani, Sirven, Joseph, Smith, Michael, Smith, Phil EM, Thio, Liu Lin, Thomas, Rhys H, Venkat, Anu, Vining, Eileen, Von Allmen, Gretchen, Weisenberg, Judith, Widdess‐Walsh, Peter, and Winawer, Melodie R

Subjects
Neurodegenerative, Neurosciences, Epilepsy, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Electroencephalography, Epileptic Syndromes, Female, Humans, Latent Class Analysis, Male, Pedigree, Phenotype, epilepsy, genetics, latent class analysis, phenotype, Epi4K Consortium, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectiveClassification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data-driven approach may augment traditional electroclinical classification and shed new light on existing classification frameworks.MethodsWe used latent class analysis, a statistical method that assigns subjects into groups called latent classes based on phenotypic elements, to classify individuals with common familial epilepsies from the Epi4K Multiplex Families study. Phenotypic elements included seizure types, seizure symptoms, and other elements of the medical history. We compared class assignments to traditional electroclinical classifications and assessed familial aggregation of latent classes.ResultsA total of 1120 subjects with epilepsy were assigned to five latent classes. Classes 1 and 2 contained subjects with generalized epilepsy, largely reflecting the distinction between absence epilepsies and younger onset (class 1) versus myoclonic epilepsies and older onset (class 2). Classes 3 and 4 contained subjects with focal epilepsies, and in contrast to classes 1 and 2, these did not adhere as closely to clinically defined focal epilepsy subtypes. Class 5 contained nearly all subjects with febrile seizures plus or unknown epilepsy type, as well as a few subjects with generalized epilepsy and a few with focal epilepsy. Family concordance of latent classes was similar to or greater than concordance of clinically defined epilepsy types.SignificanceQuantitative classification of epilepsy has the potential to augment traditional electroclinical classification by (1) combining some syndromes into a single class, (2) splitting some syndromes into different classes, (3) helping to classify subjects who could not be classified clinically, and (4) defining the boundaries of clinically defined classifications. This approach can guide future research, including molecular genetic studies, by identifying homogeneous sets of individuals that may share underlying disease mechanisms.

Published
2019

7. Clinical spectrum of STX1B-related epileptic disorders.

Author

Cilio, Maria, Van Paesschen, Wim, Svendsen, Lene, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair, Vavoulis, Dimitris, Knight, Samantha, Taylor, Jenny, Canevini, Maria, Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric, Kluger, Gerhard, Lowenstein, Daniel, Weckhuysen, Sarah, Pal, Deb, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys, Rees, Mark, Lesca, Gaetan, Sisodiya, Sanjay, Weber, Yvonne, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian, Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke, Balestrini, Simona, Helbig, Katherine, Altuzarra, Cecilia, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce, and Numis, Adam

Subjects
Adolescent, Anticonvulsants, Child, Child, Preschool, Developmental Disabilities, Drug Resistant Epilepsy, Electroencephalography, Epilepsies, Partial, Epileptic Syndromes, Female, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Learning Disabilities, Loss of Function Mutation, Male, Mutation, Missense, Phenotype, Seizures, Febrile, Sequence Analysis, DNA, Syntaxin 1, Young Adult
Abstract

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

Published
2019

8. Sex-specific disease modifiers in juvenile myoclonic epilepsy

Author

Shakeshaft, Amy, Panjwani, Naim, Collingwood, Amber, Crudgington, Holly, Hall, Anna, Andrade, Danielle M., Beier, Christoph P., Fong, Choong Yi, Gardella, Elena, Gesche, Joanna, Greenberg, David A., Hamandi, Khalid, Koht, Jeanette, Lim, Kheng Seang, Møller, Rikke S., Ng, Ching Ching, Orsini, Alessandro, Rees, Mark I., Rubboli, Guido, Selmer, Kaja K., Striano, Pasquale, Syvertsen, Marte, Thomas, Rhys H., Zarubova, Jana, Richardson, Mark P., Strug, Lisa J., and Pal, Deb K.

Published
2022
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11. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Author

Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, DeJonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther M C, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O'Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, vanBaalen, Andreas, vonSpiczak, 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, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I, Chung, Seo-Kyung, Pickrell, William O, Powell, Robert, 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, Barišić, Nina, Delanty, Norman, Doherty, Colin P, Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G, King, Chontelle, Mountier, Emily, Caglayan, Hande S, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R, Shain, Catherine, 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, Khankhanian, Pouya, Helbig, Katherine L, Ellis, Colin A, Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T, Pato, Carlos N, Bromet, Evelyn J, Carvalho, Celia Barreto, Achtyes, Eric D, Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Medeiros, Helena, Morley, Christopher P, Perkins, Diana O, Sobell, Janet L, Buckley, Peter F, Macciardi, Fabio, Rapaport, Mark H, Knowles, James A, Cohort, Genomic Psychiatry, Fanous, Ayman H, McCarroll, Steven A, Gupta, Namrata, Gabriel, Stacey B, Daly, Mark J, Lander, Eric S, Lowenstein, Daniel H, Goldstein, David B, Lerche, Holger, Berkovic, Samuel F, Neale, Benjamin M, Koko, Mahmoud, Sander, Thomas, Bobbili, Dheeraj Reddy, and Nothnagel, Michael

Published
2021
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12. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., 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., 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., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, 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 M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, 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, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, 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, Nobili, Lino, Amadori, Elisabetta, 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, YeşÇiğdem, 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, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., and Goldstein, David B.

Published
2021
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13. Phenotypic analysis of 303 multiplex families with common epilepsies.

Author

Abou-Khalil, Bassel, Afawi, Zaid, Allen, Andrew S, Bautista, Jocelyn F, Bellows, Susannah T, Berkovic, Samuel F, Bluvstein, Judith, Burgess, Rosemary, Cascino, Gregory, Cops, Elisa J, Cossette, Patrick, Cristofaro, Sabrina, Crompton, Douglas E, Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P, Fountain, Nathan B, Freyer, Catharine, Garry, Sarah I, Geller, Eric B, Glauser, Tracy, Glynn, Simon, Goldberg-Stern, Hadassa, Goldstein, David B, Gravel, Micheline, Haas, Kevin, Haut, Sheryl, Heinzen, Erin L, Kirsch, Heidi E, Kivity, Sara, Knowlton, Robert, Korczyn, Amos D, Kossoff, Eric, Kuzniecky, Ruben, Loeb, Rebecca, Lowenstein, Daniel H, Marson, Anthony G, McCormack, Mark, McKenna, Kevin, Mefford, Heather C, Motika, Paul, Mullen, Saul A, O'Brien, Terence J, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack M, Paterson, Sarah, Petrovski, Slave, Pickrell, William Owen, Poduri, Annapurna, Rees, Mark I, Sadleir, Lynette G, Scheffer, Ingrid E, Shih, Jerry, Singh, Rani, Sirven, Joseph, Smith, Michael, Smith, Phil EM, Thio, Liu Lin, Thomas, Rhys H, Venkat, Anu, Vining, Eileen, Von Allmen, Gretchen, Weisenberg, Judith, Widdess-Walsh, Peter, and Winawer, Melodie R

Subjects
Genetics, Clinical Research, Brain Disorders, Pediatric, Neurosciences, Epilepsy, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Age of Onset, Child, Child, Preschool, Epilepsy, Generalized, Family Health, Female, Humans, Male, Pedigree, Phenotype, Sex Factors, Young Adult, epilepsy, multiplex families, phenotype, genetics, Epi4K Consortium, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses. Families with three or more individuals with unprovoked seizures were studied across multiple international centres. Affected individuals were phenotyped and classified according to specific electroclinical syndromes. Families were categorized based on syndromic groupings of affected family members, examined for pedigree structure and phenotypic patterns and, where possible, assigned specific familial epilepsy syndromes. A total of 303 families were assembled and analysed, comprising 1120 affected phenotyped individuals. Of the 303 families, 117 exclusively segregated generalized epilepsy, 62 focal epilepsy, and 22 were classified as genetic epilepsy with febrile seizures plus. Over one-third (102 families) were observed to have mixed epilepsy phenotypes: 78 had both generalized and focal epilepsy features within the same individual (n = 39), or within first or second degree relatives (n = 39). Among the genetic generalized epilepsy families, absence epilepsies were found to cluster within families independently of juvenile myoclonic epilepsy, and significantly more females were affected than males. Of the 62 familial focal epilepsy families, two previously undescribed familial focal syndrome patterns were evident: 15 families had posterior quadrant epilepsies, including seven with occipito-temporal localization and seven with temporo-parietal foci, and four families displayed familial focal epilepsy of childhood with multiple affected siblings that was suggestive of recessive inheritance. The findings suggest (i) specific patterns of syndromic familial aggregation occur, including newly recognized forms of familial focal epilepsy; (ii) although syndrome-specificity usually occurs in multiplex families, the one-third of families with features of both focal and generalized epilepsy is suggestive of shared genetic determinants; and (iii) patterns of features observed across families including pedigree structure, sex, and age of onset may hold clues for future gene identification. Such detailed phenotypic information will be invaluable in the conditioning and interpretation of forthcoming sequencing data to understand the genetic architecture and inter-relationships of the common epilepsy syndromes.

Published
2017

16. Ten-year Mortality, Disease Progression, and Treatment-related Side Effects in Men with Localised Prostate Cancer from the ProtecT Randomised Controlled Trial According to Treatment Received

Author

Hamdy, Freddie C., Donovan, Jenny L., Neal, David E., Lane, J. Athene, Metcalfe, Chris, Peters, Tim J., Bollina, Prasad, Doble, Andrew, Doherty, Alan, Gnanapragasam, Vincent, Hughes, Owen, Gillatt, David, Kockelbergh, Roger, Kynaston, Howard, Paul, Alan, Paez, Edgar, Powell, Philip, Prescott, Stephen, Rosario, Derek, Rowe, Edward, Anderson, John B., Aning, Jonathan, Catto, James, Durkan, Garett, Koupparis, Anthony, Leung, Hing, Mariappan, Param, McNeill, Alan, Persad, Raj, Schwaibold, Hartwig, Tulloch, David, Wallace, Michael, Bonnington, Susan, Bradshaw, Lynne, Cooper, Deborah, Elliott, Emma, Herbert, Phillipa, Holding, Peter, Howson, Joanne, Jones, Amanda, Lennon, Teresa, Lyons, Norma, Moody, Hilary, Plumb, Claire, O'Sullivan, Tricia, Salter, Elizabeth, Thompson, Pauline, Tidball, Sarah, Blaikie, Jan, Gray, Catherine, Adam, Tonia, Askew, Sarah, Atkinson, Sharon, Baynes, Tim, Brain, Carole, Breen, Viv, Brunt, Sarah, Bryne, Sean, Bythem, Jo, Clarke, Jenny, Cloete, Jenny, Dark, Susan, Davis, Gill, Rue, Rachael De La, Denizot, Jane, Dewhurst, Elspeth, Dimes, Anna, Dixon, Nicola, Ebbs, Penny, Emmerson, Ingrid, Ferguson, Jill, Gadd, Ali, Geoghegan, Lisa, Grant, Alison, Grant, Collette, Godfrey, Rosemary, Goodwin, Louise, Hall, Susie, Hart, Liz, Harvey, Andrew, Hoult, Chloe, Hawkins, Sarah, Holling, Sharon, Innes, Alastair, Kilner, Sue, Marshall, Fiona, Mellen, Louise, Moore, Andrea, Napier, Sally, Needham, Julie, Pearse, Kevin, Pisa, Anna, Rees, Mark, Richards, Ellie, Robson, Lindsay, Roxburgh, Janet, Samuel, Nikki, Sharkey, Irene, Slater, Michael, Smith, Donna, Taggart, Pippa, Taylor, Helen, Taylor, Vicky, Thomas, Ayesha, Tomkies, Briony, Trewick, Nicola, Ward, Claire, Walker, Christy, Williams, Ayesha, Woodhouse, Colin, Wyber, Elizabeth, Mason, Malcolm, Bahl, Amit, Benson, Richard, Beresford, Mark, Ferguson, Catherine, Graham, John, Herbert, Chris, Howard, Grahame, James, Nick, Kirkbride, Peter, Law, Alastair, Loughrey, Carmel, McClaren, Duncan, Patterson, Helen, Pedley, Ian, Roberts, Trevor, Robinson, Angus, Russell, Simon, Staffurth, John, Symonds, Paul, Thanvi, Narottam, Vasanthan, Subramaniam, Wilson, Paula, Oxley, Jon, Robinson, Mary, Bhattarai, Selina, Deshmukh, Neeta, Dormer, John, Fernando, Malee, Goepel, John, Griffiths, David, Grigor, Ken, Mayer, Nick, Varma, Murali, Warren, Anne, Appleby, Helen, Ash, Dominic, Aston, Dean, Bolton, Steven, Chalmers, Graham, Conway, John, Early, Nick, Geater, Tony, Goddall, Lynda, Heymann, Claire, Hicks, Deborah, Jones, Liza, Lamb, Susan, Lambert, Geoff, Lawrence, Gill, Lewis, Geraint, Lilley, John, MacLeod, Aileen, Massey, Pauline, McQueen, Alison, Moore, Rollo, Penketh, Lynda, Potterton, Janet, Roberts, Neil, Showler, Helen, Shuttleworth, Pam, Slade, Stephen, Steele, Alasdair, Swinscoe, James, Tiffany, Marie, Townley, John, Treeby, Jo, Weston, Michael, Wilkinson, Joyce, Williams, Lorraine, Wills, Lucy, Woodley, Owain, Yarrow, Sue, Brindle, Lucy, Davies, Linda, Davis, Michael, Dedman, Dan, Down, Elizabeth, Khazragui, Hanan, Martin, Richard M., Noble, Sian, Taylor, Hilary, Tazewell, Marta, Turner, Emma L., Wade, Julia, Walsh, Eleanor, Baker, Susan, Bellis-Sheldon, Elizabeth, Bougard, Chantal, Bowtell, Joanne, Brewer, Catherine, Burton, Chris, Charlton, Jennie, Christoforou, Nicholas, Clark, Rebecca, Coull, Susan, Croker, Christine, Currer, Rosemary, Daisey, Claire, Delaney, Gill, Donohue, Rose, Drew, Jane, Farmer, Rebecca, Fry, Susan, Haddow, Jean, Hale, Alex, Halpin, Susan, Harris, Belle, Hattrick, Barbara, Holmes, Sharon, Hunt, Helen, Jackson, Vicky, Johnson, Donna, Le Butt, Mandy, Leworthy, Jo, Liddiatt, Tanya, Martin, Alex, Mauree, Jainee, Moore, Susan, Moulam, Gill, Mutch, Jackie, Parker, Kathleen, Pawsey, Christopher, Purdie, Michelle, Robson, Teresa, Smith, Lynne, Stenton, Carole, Steuart-Feilding, Tom, Stott, Beth, Sully, Chris, Sutton, Caroline, Torrington, Carol, Wilkins, Zoe, Williams, Sharon, Wilson, Andrea, Weaver, Ashleigh, Albertsen, Peter, Adolfsson, Jan, Baum, Michael, McFarlane, Jon, Reid, Colette, Turner, Emma, Zietman, Anthony, Hill, Elizabeth, Ng, Siaw Yein, Williams, Naomi, Toole, Jessica, Davies, Charlotte, Hughes, Laura, Rowlands, Mari-Anne, Bell, Lindsey, Harrison, Sean, Mauree, Jainnee, Grant, Adrian, Roberts, Ian, Ashby, Deborah, Cowan, Richard, Fayers, Peter, Mellon, Killian, N’Dow, James, O’Brien, Tim, Sokhal, Michael, Dearnaley, David, Schröder, Fritz, Roberts, Tracy, Young, Grace J., Dutton, Susan J., Walsh, Eleanor I., Peters, Tim. J., Bryant, Richard, Rosario, Derek J., and Altman, Doug G.

Published
2020
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17. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Author

Consortium, Epi4K, Myers, Candace T, McMahon, Jacinta M, Schneider, Amy L, Petrovski, Slavé, Allen, Andrew S, Carvill, Gemma L, Zemel, Matthew, Saykally, Julia E, LaCroix, Amy J, Heinzen, Erin L, Hollingsworth, Georgina, Nikanorova, Marina, Corbett, Mark, Gecz, Jozef, Coman, David, Freeman, Jeremy, Calvert, Sophie, Gill, Deepak, Carney, Patrick, Lerman-Sagie, Tally, Sampaio, Hugo, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E, Epstein, Michael P, Glauser, Tracy, Johnson, Michael R, Kuzniecky, Ruben, Marson, Anthony G, O’Brien, Terence J, Ottman, Ruth, Petrou, Stephen, Poduri, Annapurna, Pickrell, William O, Chung, Seo-Kyung, Rees, Mark I, Sherr, Elliott, Sadleir, Lynette G, Goldstein, David B, Lowenstein, Daniel H, Møller, Rikke S, Berkovic, Samuel F, Scheffer, Ingrid E, and Mefford, Heather C

Subjects
Human Genome, Brain Disorders, Pediatric, Prevention, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Calcium Channels, Child, Preschool, Cohort Studies, Epilepsy, Excitatory Amino Acid Transporter 2, Female, GTP-Binding Protein alpha Subunits, Gi-Go, Glutamate Plasma Membrane Transport Proteins, Guanine Nucleotide Exchange Factors, Humans, Infant, Infant, Newborn, Male, Mosaicism, Mutation, N-Acetylglucosaminyltransferases, Receptors, GABA-A, Seizures, Epi4K Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity. Our previous whole-exome sequencing study of 264 parent-child trios revealed more than 290 candidate genes in which only a single individual had a de novo variant. We sought to identify additional pathogenic variants in a subset (n = 27) of these genes via targeted sequencing in an unsolved cohort of 531 individuals with a diverse range of EEs. We report 17 individuals with pathogenic variants in seven of the 27 genes, defining a genetic etiology in 3.2% of this unsolved cohort. Our results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3. We also identified EEs caused by genetic variants in ALG13, DNM1, and GNAO1 and report a mutation in IQSEC2. Notably, recurrent mutations accounted for 7/17 of the pathogenic variants identified. As a result of high-depth coverage, parental mosaicism was identified in two out of 14 cases tested with mutant allelic fractions of 5%-6% in the unaffected parents, carrying significant reproductive counseling implications. These results confirm that dysregulation in diverse cellular neuronal pathways causes EEs, and they will inform the diagnosis and management of individuals with these devastating disorders.

Published
2016

20. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M.C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, 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, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, 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., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, 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, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., and Neale, Benjamin M.

Published
2019
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24. Evolutionary Demography

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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25. Environmental Stochasticity

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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26. Spatial Models

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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27. Simple Deterministic IPM

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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28. Density Dependence

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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29. General Deterministic IPM

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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30. Basic Analyses 2: Prospective Perturbation Analysis

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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31. Basic Analyses 1: Demographic Measures and Events in the Life Cycle

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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32. Introduction

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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33. Future Directions and Advanced Topics

Author

Ellner, Stephen P., Childs, Dylan Z., Rees, Mark, Stevens, Angela, Editor-in-chief, Mackey, Michael, Editor-in-chief, Burger, Martin, Series editor, Chacron, Maurice, Series editor, Diekmann, Odo, Series editor, Layton, Anita, Series editor, Jinzhi, Lei, Series editor, Lewis, Mark, Series editor, Mahadevan, Lakshminarayanan, Series editor, Maini, Philip, Series editor, Mimura, Masayasu, Series editor, Neuhauser, Claudia, Series editor, Othmer, Hans G., Series editor, Peletier, Mark, Series editor, Perelson, Alan S, Series editor, Peskin, Charles S., Series editor, Preziosi, Luigi, Series editor, Rubin, Jonathan, Series editor, Santillán-Zeron, Moises, Series editor, Schütte, Christoph, Series editor, Sneyd, James, Series editor, Swain, Peter, Series editor, Tyran-Kamińska, Marta, Series editor, Wu, Jianhong, Series editor, Ellner, Stephen P., Childs, Dylan Z., and Rees, Mark

Published
2016
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34. 'Living in no man's land' : the experiences of male victims of stalking

Author

Rees, Mark

Subjects
364
Abstract

Recent years have seen the development of a body of research on stalking behaviour. However, this research has primarily focused on the experiences of female victims creating an identifiable gap in exploring the experiences of male victims. This thesis seeks to address this gap by examining the experiences of 23 male victims of stalkers. In examining the experiences of male victims, this thesis begins by identifying the dominant discourses that have evolved around stalking. Then, by the adoption of a grounded methodological framework, common meanings and understandings in the male participants' narratives are identified. These themes reveal that the men's understanding and experiences of being stalked are at odds with the view that being stalked is not a problem for men. This perspective is confirmed by the participants' experiences within the criminal justice system as they seek to accomplish victimisation. By drawing on a constellation of sociological theories, my study reveals the problematic experiential nature of being stalked. This includes the effect a stalking experience can have on a masculine identity, so much so that a man may respond by 'reclaiming' his masculinity. For some men, a stalking experience can threaten their identity even to the point that their identity can appear to be on the verge of collapsing. My study also shows how men try to make sense of their stalking experiences by drawing on stalking discourses from popular culture. As my study reveals the problematic nature of being stalked for men, there is the need for all those researching and developing policy for stalking victims to adequately take into account the experiences of male as well as female victims.

Published
2010

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