Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Paul V. Motika"'
Autor:
Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105404- (2024)
Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and pheno
Externí odkaz:
https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1
Publikováno v:
Epilepsia. 59:1676-1683
Objective To determine the frequency and yield of neuroimaging in patients with known seizure disorders presenting to the emergency department (ED) with recurrent (nonindex) seizures. Methods We reviewed 822 consecutive ED visits for nonindex seizure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1a8384329cf20b0cc0d309d99a4cd9
https://doi.org/10.1111/epi.14518
https://doi.org/10.1111/epi.14518
Autor:
Andrew S Allen, Susannah T Bellows, Samuel F Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P Epstein, Catharine Freyer, David B Goldstein, Erin L Heinzen, Michael S Hildebrand, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Anthony G Marson, Richard Mayeux, Caroline Mebane, Heather C Mefford, Terence J O'Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Ingrid E Scheffer, Graeme J Sills, Rhys H Thomas, Quanli Wang, Bassel Abou-Khalil, Brian K Alldredge, Dina Amrom, Eva Andermann, Frederick Andermann, Jocelyn F. Bautista, Judith Bluvstein, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Lynette G Sadleir, Renée A. Shellhaas, Elliott H Sherr, Jerry J. Shih, Shlomo Shinnar, Rani K Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer
Publikováno v:
The Lancet. Neurology
Summary Background Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72fdd521cdd0a2e7dbb4097ff8a65438
https://eprints.gla.ac.uk/172544/1/172544.pdf
https://eprints.gla.ac.uk/172544/1/172544.pdf
Autor:
Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo
Publikováno v:
The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621084f9d64cf23e269c01040b9b090
https://pubmed.ncbi.nlm.nih.gov/25262651
https://pubmed.ncbi.nlm.nih.gov/25262651
Autor:
Eileen P.G. Vining, Patrick Cossette, Mike Smith, P. E. M. Smith, Zaid Afawi, G. D. Cascino, Jocelyn F. Bautista, EJ Cops, Robert C. Knowlton, Tracy A. Glauser, Anu Venkat, Peter Widdess-Walsh, Sara Kivity, Mark I. Rees, Kevin McKenna, Amos D. Korczyn, Douglas E. Crompton, Saul A. Mullen, Heidi E. Kirsch, Nathan B. Fountain, Sheryl R. Haut, Slavé Petrovski, Andrew S. Allen, Sarah I. Garry, Anthony G Marson, Bassel Abou-Khalil, Rhys H. Thomas, Jerry J. Shih, Michael P. Epstein, Eric H. Kossoff, Winawer, Liu Lin Thio, Daniel H. Lowenstein, Dennis J. Dlugos, Rosemary Burgess, Eric B. Geller, Micheline Gravel, Jack M. Parent, Simon Glynn, Norman Delanty, Rebecca Loeb, Terence J. O'Brien, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Judith L.Z. Weisenberg, Mark McCormack, Erin L. Heinzen, Judith Bluvstein, David Goldstein, Hadassa Goldberg-Stern, Sarah Paterson, Rinki Singh, Sabrina Cristofaro, Ruth Ottman, Susannah T. Bellows, R. Kuzniecky, Paul V. Motika, Heather C Mefford, Catharine Freyer, Annapurna Poduri, Juliann M. Paolicchi, Orrin Devinsky, Kevin Haas, Samuel F. Berkovic, Von, Allmen, G, Lynette G. Sadleir
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 generali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867f4cc029d003ee18e1be0cfd54d18b
https://cronfa.swan.ac.uk/Record/cronfa34711/Download/34711__17853__8813e43263704468ac9f1a6b73e2cbb7.pdf
https://cronfa.swan.ac.uk/Record/cronfa34711/Download/34711__17853__8813e43263704468ac9f1a6b73e2cbb7.pdf
Autor:
David C. Spencer, Paul V. Motika
Publikováno v:
Current Neurology and Neuroscience Reports. 16
The treatment of epilepsy in older individuals is an increasingly important topic in neurology and an area that all treating neurologists should have familiarity with. As the population ages, the number of patients over 65 who present with new-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b837b19388d1501c09e95e5da6a2cda5
https://doi.org/10.1007/s11910-016-0696-8
https://doi.org/10.1007/s11910-016-0696-8
Autor:
Paul V, Motika
Publikováno v:
Neurology. 85(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c11361c38e2413c9a9d94b887fa0c67d
https://pubmed.ncbi.nlm.nih.gov/26304684
https://pubmed.ncbi.nlm.nih.gov/26304684