Search Results - Mark Nespeca

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  1. 1
    Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

    Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options by Ronald L. Thibert, Kerry D. Conant, Eileen Braun, Patricia L. Bruno, Rana Said, Mark Nespeca, Elizabeth A. Thiele

    Published 2009
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  2. 2
    Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

    Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics by Joel Frohlich, Jeffrey N. Chiang, Pedro A. M. Mediano, Mark Nespeca, Vidya Saravanapandian, Daniel Toker, John Dell’Italia, Joerg F. Hipp, Shafali Jeste, Catherine J. Chu, Lynne M. Bird, Martin M. Monti

    Published 2022
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  3. 3
    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy

    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy by Andrés M. Kanner, Eric Ashman, David Gloss, Cynthia L. Harden, Blaise F. D. Bourgeois, Jocelyn F. Bautista, Bassel Abou‐Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John M. Stern, Deborah Hirtz, Mark Nespeca, Barry E. Gidal, Edward Faught, Jacqueline A. French

    Published 2018
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  4. 4
    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy

    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy by Andrés M. Kanner, Eric Ashman, David Gloss, Cynthia L. Harden, Blaise F. D. Bourgeois, Jocelyn F. Bautista, Bassel Abou‐Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John M. Stern, Deborah Hirtz, Mark Nespeca, Barry E. Gidal, Edward Faught, Jacqueline A. French

    Published 2018
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  5. 5
    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy

    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy by Andrés M. Kanner, Eric Ashman, David Gloss, Cynthia L. Harden, Blaise F. D. Bourgeois, Jocelyn F. Bautista, Bassel Abou‐Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John M. Stern, Deborah Hirtz, Mark Nespeca, Barry E. Gidal, Edward Faught, Jacqueline A. French

    Published 2018
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  6. 6
    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy

    Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy by Andrés M. Kanner, Eric Ashman, David Gloss, Cynthia L. Harden, Blaise F. D. Bourgeois, Jocelyn F. Bautista, Bassel Abou‐Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John M. Stern, Deborah Hirtz, Mark Nespeca, Barry E. Gidal, Edward Faught, Jacqueline A. French

    Published 2018
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  7. 7
    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome by Lynne M. Bird, Wen‐Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Kriti Mohan, Mark Nespeca, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Arthur L. Beaudet

    Published 2011
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  8. 8
    Angelman syndrome: Mutations influence features in early childhood

    Angelman syndrome: Mutations influence features in early childhood by Wen‐Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Sanjeev V. Kothare, Hye‐Seung Lee, Mark Nespeca, Sarika U. Peters, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Lynne M. Bird

    Published 2010
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  9. 9
    Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial

    Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial by Cynthia Sharpe, Gail Reiner, Suzanne L. Davis, Mark Nespeca, Jeffrey J. Gold, Maynard R. Rasmussen, Rachel Kuperman, Mary Jo Harbert, David Michelson, Priscilla Joe, Sonya Wang, Neggy Rismanchi, Ngọc Minh Lê, Andrew Mower, Jae Kim, Malcolm Battin, Brian Lane, Jose Honold, Ellen Knodel, Kathy Arnell, Renee Bridge, Lilly Lee, Karin Ernström, Rema Raman, Richard Haas

    Published 2020
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  10. 10
    Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new onset epilepsy [RETIRED]

    Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new onset epilepsy [RETIRED] by Jacqueline A. French, Andrés M. Kanner, Jocelyn F. Bautista, B. Abou‐Khalil, Thomas Browne, Cynthia L. Harden, William H. Theodore, Carl W. Bazil, John M. Stern, Steven C. Schachter, Donna Bergen, Deborah Hirtz, Georgia Montouris, Mark Nespeca, Barry E. Gidal, William J. Marks, William R. Turk, James H. Fischer, Blaise F. D. Bourgeois, Andrew N. Wilner, Edward Faught, Rǎjesh C. Sachdeo, Ahmad Beydoun, Tracy A. Glauser

    Published 2004
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  11. 11
    Efficacy and Tolerability of the New Antiepileptic Drugs, II: Treatment of Refractory Epilepsy: Report of the TTA and QSS Subcommittees of the American Academy of Neurology and the American Epilepsy Society

    Efficacy and Tolerability of the New Antiepileptic Drugs, II: Treatment of Refractory Epilepsy: Report of the TTA and QSS Subcommittees of the American Academy of Neurology and the... by Jacqueline A. French, Andrés M. Kanner, Jocelyn F. Bautista, Bassel Abou‐Khalil, Thomas Browne, Cynthia L. Harden, William H. Theodore, Carl W. Bazil, John M. Stern, Steven C. Schachter, Donna Bergen, Deborah Hirtz, Georgia Montouris, Mark Nespeca, Barry E. Gidal, William J. Marks, William R. Turk, James H. Fischer, Blaise Bourgeois, Andrew N. Wilner, Edward Faught, Rǎjesh C. Sachdeo, Ahmad Beydoun, Tracy A. Glauser

    Published 2004
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  12. 12
    Efficacy and Tolerability of the New Antiepileptic Drugs, I: Treatment of New‐Onset Epilepsy: Report of the TTA and QSS Subcommittees of the American Academy of Neurology and the American Epilepsy Society

    Efficacy and Tolerability of the New Antiepileptic Drugs, I: Treatment of New‐Onset Epilepsy: Report of the TTA and QSS Subcommittees of the American Academy of Neurology and the A... by Jacqueline A. French, Andrés M. Kanner, Jocelyn F. Bautista, Bassel Abou‐Khalil, Thomas Browne, Cynthia L. Harden, William H. Theodore, Carl W. Bazil, John M. Stern, Steven C. Schachter, Donna Bergen, Deborah Hirtz, Georgia Montouris, Mark Nespeca, Barry E. Gidal, William J. Marks, William R. Turk, James H. Fischer, Blaise Bourgeois, Andrew N. Wilner, Edward Faught, Rǎjesh C. Sachdeo, Ahmad Beydoun, Tracy A. Glauser

    Published 2004
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  13. 13
    Efficacy and tolerability of the new antiepileptic drugs II: Treatment of refractory epilepsy [RETIRED]

    Efficacy and tolerability of the new antiepileptic drugs II: Treatment of refractory epilepsy [RETIRED] by Jacqueline A. French, Andrés M. Kanner, Jocelyn F. Bautista, B. Abou‐Khalil, Thomas Browne, Cynthia L. Harden, William H. Theodore, Carl W. Bazil, John M. Stern, Steven C. Schachter, Donna Bergen, Deborah Hirtz, Georgia Montouris, Mark Nespeca, Barry E. Gidal, William J. Marks, William R. Turk, James H. Fischer, Blaise F. D. Bourgeois, Andrew N. Wilner, Edward Faught, Rǎjesh C. Sachdeo, Ahmad Beydoun, Tracy A. Glauser

    Published 2004
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  14. 14
    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome by Mallory Owen, Anna‐Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca, Kevin Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Holm Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A. Hobbs, Serge Batalov, Zhanyang Zhu, Shareef Nahas, Sheldon Gilmer, G. R. Knight, Sébastien Lefebvre, John Reynders, Thomas Defay, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Bryan R. Lajoie, Tim K McPhail, Shyamal Mehtalia, Chris M. Kunard, Kevin P. Hall, Stephen F. Kingsmore

    Published 2021
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  15. 15
    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions by Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha Roberson, Mark Hermann, Emily A. Quinn, James B. Maas, Robert H. Edwards, Tetsuo Ashizawa, Betül Baykan, Kailash P. Bhatia, Susan Bressman, Michiko Kimura Bruno, E. R. Brunt, Roberto Caraballo, Bernard Échenne, Natalio Fejerman, Steven J. Frucht, Christina A. Gurnett, Édouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing‐Wen Soong, Kathryn J. Swoboda, S. Craig Tucker, Nicholas Wood, Michael G. Hanna, A. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

    Published 2012
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  16. 16
    A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

    A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome by Jessica Duis, Mark Nespeca, J Summers, Lynne M. Bird, Karen Bindels‐de Heus, Marlies J. Valstar, Marie‐Claire Y. de Wit, Cindy Navis, Maartje ten Hooven‐Radstaake, Bianca M. van Iperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald L. Thibert, Daniel G. Glaze, Christopher J. Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily F. Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid Chambers, Sarah Harris, Henry G. Chambers, Katherine C. Okoniewski, Elizabeth Jalazo, Allyson Berent, Carlos A. Bacino, Charles A. Williams, Anne E. Anderson

    Published 2022
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  17. 17
    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development by Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Y. Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson

    Published 2022
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  18. 18
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations by Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Published 2018
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  19. 19
    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development by Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson, Marilyn C. Jones, Diane Masser‐Frye, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Hélio Rubens Machado, Camila Araújo Bernardino Garcia, Wilson A. Silva, Se Hoon Kim, Hoon‐Chul Kang, Yasemin Alanay, Seema Kapoor, Carola A. Haas, Georgia Ramantani, Thomas J. Feuerstein, Ingmar Blümcke, Robyn M. Busch, Ying Zhong, Vadym Biloshytsky, Kostiantyn Kostiuk, Pedachenko Eg, Gary W. Mathern, Christina A. Gurnett, Matthew D. Smyth, Ingo Helbig, Benjamin C. Kennedy, Judy Liu, Felix Chan, Darcy A. Krueger, Richard E. Frye, Angus A. Wilfong, David L. Adelson, William D. Gaillard, Chima Oluigbo, Anne E. Anderson, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Eduardo A. Maury, Javier Ganz

    Published 2023
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  20. 20
    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases by Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen, Chris M. Kunard, David Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary Willis, Annette Feigenbaum, Anna‐Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna A. Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal Mehtalia, Kevin Chau, Yong Hyun Kwon, Zhanyang Zhu, Serge Batalov, Shimul Chowdhury, Seema Rego, James C. Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, G. R. Knight, Albert Oriol, Jerica Lenberg, Shareef Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford Kobayashi, Kristen Wigby, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Seka Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew M. Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

    Published 2022
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