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1. List of Contributors

Author

Aaen, Gregory, primary, Abroms, Israel F., additional, Ådén, Ulrika, additional, Ahlsten, Gunnar, additional, Aird, Robert B., additional, Al-Zaidy, Samiah A., additional, Andermann, Fred, additional, Anlar, Banu, additional, Arzimanoglou, Alexis, additional, Ashwal, Stephen, additional, Augustine, Erika, additional, Ballaban-Gil, Karen, additional, Bamford, Nigel S., additional, Barlow, Charles F., additional, Bast, Thomas, additional, Bates, David, additional, Baumann, Robert J., additional, Bertini, Enrico, additional, Beya, Alidor, additional, Blaw, Michael, additional, Bodensteiner, John, additional, Bonthius, Daniel J., additional, Brin, Amy E., additional, Brockmann, Knut, additional, Brown, John Keith, additional, Brown, Stuart B., additional, Brumback, Audrey Christine, additional, Bureau, Michelle, additional, Burke, James R., additional, Bye, Annie, additional, Camfield, Carol, additional, Camfield, Peter, additional, Campistol Plana, Jaume, additional, Canale, Dee James, additional, Caneris, Onasis, additional, Caraballo, Roberto H., additional, Caviness, Alison Chantal, additional, Chao, Hsiao-Tuan, additional, Chapman, Catherine A., additional, Chaves-Carballo, Enrique, additional, Cho, Yoon-Jae, additional, Christen, Hans-Jürgen, additional, Chugani, Harry T., additional, Cioni, Giovanni, additional, Clark, David, additional, Cliff, Edward Robert Scheffer, additional, Cochran, Frederick B., additional, Cohen, Bruce H., additional, Cohen, Maynard M., additional, Collins, Kevin, additional, Covanis, Athanasios, additional, Critchley, Macdonald, additional, Cross, J. Helen, additional, Crumrine, Patricia K., additional, Curatolo, Paolo, additional, Davies, Pamela A., additional, deVeber, Gabrielle, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, De Waele, Liesbeth, additional, DeMyer, William, additional, Devlin, Anita, additional, Dobyns, William B., additional, Dodson, W. Edwin, additional, Donald, Kirsty, additional, Duffy, Frank H., additional, Dunn, David W., additional, Dunn, Henry G., additional, Dure, Leon S., additional, Dyken, Paul Richard, additional, Encha-Razavi, Férechté, additional, Erenberg, Gerald, additional, Estes, Melinda L., additional, Evrard, Philippe, additional, Ferriero, Donna, additional, Ferry, Peggy, additional, Fine, Archie, additional, Fine, Edward J., additional, Fine, John S., additional, Finkel, Richard S., additional, Fischer, Alain, additional, Fischer, Christine, additional, Fogan, Lance, additional, Fowler, Glenn W., additional, Frank, Yitzchak, additional, Fullerton, Heather J., additional, Furukawa, Tetsuo, additional, Gabriel, Ronald S., additional, Galanopoulou, Aristea S., additional, Gardner-Medwin, David, additional, Garg, Bhuwan, additional, Genton, Pierre, additional, George, Mark S., additional, Gineste, Thierry, additional, Giza, Christopher C., additional, Goemans, Nathalie, additional, Golden, Gerald S., additional, Golden, Jeffrey Alan, additional, Goldstein, Gary W., additional, Gomez, Christopher, additional, Gomez, Manuel R., additional, Gomez, Timothy, additional, Goodkin, Howard P., additional, Gordon, Neil, additional, Gressens, Pierre, additional, Groger, Helmut, additional, Guerrini, Renzo, additional, Gurnett, Christina A., additional, Gussoni, Emanuela, additional, Haas, Richard, additional, Hagberg, Bengt, additional, Haller, Jerome S., additional, Hartman, Adam L., additional, Haruda, Fred, additional, Hirtz, Deborah, additional, Hogan, Gwendolyn R., additional, Hunt, Guy M., additional, Iannaccone, Susan T., additional, Eleanor Inder, Terrie, additional, Ionasescu, Victor, additional, Jansen, Katrien, additional, Jiang, Yuwu, additional, Kaminski, Henry J., additional, Kamoshita, Shigehiko, additional, Kang, Peter B., additional, Kaufman, David M., additional, Kaufmann, Walter E., additional, Kaye, Edward M., additional, Kellaway, Peter, additional, Kelley, Rhona S., additional, Kennedy, Charles, additional, Kim, Young-Min, additional, Kirby, Michael, additional, Kirton, Adam, additional, Kobayashi, Eliane, additional, Kossoff, Eric H., additional, Koutroumanidis, Michail, additional, Krupp, Lauren, additional, Lange, Bernadette M., additional, Lanska, Douglas J., additional, Lanska, Mary Jo, additional, Larsen, Paul D., additional, Lassoff, Samuel J., additional, Laterra, John, additional, Lemieux, Bernard, additional, Lenn, Nicholas J., additional, Logan, William J., additional, Lomax, Elizabeth, additional, Longo, Lawrence D., additional, Lorris Betz, A., additional, Manyam, Bala V., additional, Marks, Warren A., additional, Massey, E. Wayne, additional, Mate, Laszlo J., additional, McKinlay, Ian, additional, McLean, William T., additional, McLellan, Ailsa, additional, Mehler, Mark F., additional, Melchior, Johannes C., additional, Michelson, David J., additional, Miller, Steven P., additional, Miller, Suzanne L., additional, Millichap, J. Gordon, additional, Minns, Robert A., additional, Mizrahi, Eli M., additional, Moser, Ann B., additional, Moshé, Solomon L., additional, Muhle, Hiltrud, additional, Muntoni, Francesco, additional, Naidu, Sakkubai, additional, Narayanan, Vinodh, additional, Nardocci, Nardo, additional, Neil, Jeffrey J., additional, Neumeyer, Ann, additional, Noetzel, Michael J., additional, Nomura, Yoshiko, additional, Nordli, Douglas R., additional, North, Kathryn, additional, Ohtsuka, Yoko, additional, O’Callaghan, Finbar J.K., additional, Packer, Roger J., additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearl, Phillip L., additional, Philippart, Michel, additional, Pihko, Helena S., additional, Piller, Gordon, additional, Platz, Thomas F., additional, Poduri, Annapurna, additional, Pollack, Michael A., additional, Porter, Brenda E., additional, Provis, Michèle, additional, Rating, Dietz, additional, Reich, Harold, additional, Remler, Bernd, additional, Rho, Jong M., additional, Richards, Peter, additional, Richardson, Edward P., additional, Richardson, Sylvia O., additional, Roach, E. Steve, additional, Rose, Arthur L., additional, Rozear, Marvin P., additional, Rubinstein, Lucien J., additional, Rust, Robert S., additional, Saini, Arushi Gahlot, additional, Saint-Anne Dargassies, Suzanne, additional, Sarnat, Harvey B., additional, Sarwar, Mohammad, additional, Satran, Richard, additional, Schneider, Sanford, additional, Schrank, Waltraud, additional, Scott, Rodney C., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Sestan, Nenad, additional, Shapiro, Steven, additional, Sherr, Elliott H., additional, Shevell, Michael, additional, Shield, Lloyd, additional, Sidman, Richard L., additional, Silverstein, Faye S., additional, Sinnreich, Michael, additional, Snead, O. Carter, additional, Solomons, Regan, additional, Soria-Duran, Emilio, additional, Stafstrom, Carl E., additional, Steven Roach, E., additional, Stevens, Harold, additional, Strassburg, Hans Michael, additional, Stumpf, David A., additional, Sullivan, Thomas, additional, Swick, Herbert M., additional, Swisher, Charles N., additional, Takahashi, Takao, additional, Tein, Ingrid, additional, Tochen, Laura, additional, Thomas, Eva E., additional, Thompson, Alan, additional, Toor, Svinder S., additional, Tyler, H. Richard, additional, Uldall, Peter, additional, Urion, David K., additional, Valappil, Ahsan Moosa Naduvil, additional, Van Toorn, Ronald, additional, Vermilion, Jennifer, additional, Vidaver, Doris, additional, Vohr, Betty R., additional, Vollmer, Brigitte, additional, Volpe, Joseph J., additional, Waber, Deborah P., additional, Wainwright, Mark S., additional, Waites, Lucius, additional, Walsh, Christopher, additional, Weindl, Adolf, additional, Whelan, Mary Anne, additional, White, Larry E., additional, Whittemore, Vicky Holets, additional, Wilmshurst, Jo, additional, Wirrell, Elaine, additional, Wolf, Nicole I., additional, Youssef, Paul, additional, Zempel, John, additional, Zoghbi, Huda Y., additional, Zuberi, Sameer M., additional, and Zupanc, Mary, additional

Published
2021
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3. List of Contributors

Author

Gregory Aaen, Israel F. Abroms, Ulrika Ådén, Gunnar Ahlsten, Robert B. Aird, Samiah A. Al-Zaidy, Fred Andermann, Banu Anlar, Alexis Arzimanoglou, Stephen Ashwal, Erika Augustine, Karen Ballaban-Gil, Nigel S. Bamford, Charles F. Barlow, Thomas Bast, David Bates, Robert J. Baumann, Enrico Bertini, Alidor Beya, Michael Blaw, John Bodensteiner, Daniel J. Bonthius, Amy E. Brin, Knut Brockmann, John Keith Brown, Stuart B. Brown, Audrey Christine Brumback, Michelle Bureau, James R. Burke, Annie Bye, Carol Camfield, Peter Camfield, Jaume Campistol Plana, Dee James Canale, Onasis Caneris, Roberto H. Caraballo, Alison Chantal Caviness, Hsiao-Tuan Chao, Catherine A. Chapman, Enrique Chaves-Carballo, Yoon-Jae Cho, Hans-Jürgen Christen, Harry T. Chugani, Giovanni Cioni, David Clark, Edward Robert Scheffer Cliff, Frederick B. Cochran, Bruce H. Cohen, Maynard M. Cohen, Kevin Collins, Athanasios Covanis, Macdonald Critchley, J. Helen Cross, Patricia K. Crumrine, Paolo Curatolo, Pamela A. Davies, Gabrielle deVeber, Darryl C. De Vivo, Linda S. de Vries, Liesbeth De Waele, William DeMyer, Anita Devlin, William B. Dobyns, W. Edwin Dodson, Kirsty Donald, Frank H. Duffy, David W. Dunn, Henry G. Dunn, Leon S. Dure, Paul Richard Dyken, Férechté Encha-Razavi, Gerald Erenberg, Melinda L. Estes, Philippe Evrard, Donna Ferriero, Peggy Ferry, Archie Fine, Edward J. Fine, John S. Fine, Richard S. Finkel, Alain Fischer, Christine Fischer, Lance Fogan, Glenn W. Fowler, Yitzchak Frank, Heather J. Fullerton, Tetsuo Furukawa, Ronald S. Gabriel, Aristea S. Galanopoulou, David Gardner-Medwin, Bhuwan Garg, Pierre Genton, Mark S. George, Thierry Gineste, Christopher C. Giza, Nathalie Goemans, Gerald S. Golden, Jeffrey Alan Golden, Gary W. Goldstein, Christopher Gomez, Manuel R. Gomez, Timothy Gomez, Howard P. Goodkin, Neil Gordon, Pierre Gressens, Helmut Groger, Renzo Guerrini, Christina A. Gurnett, Emanuela Gussoni, Richard Haas, Bengt Hagberg, Jerome S. Haller, Adam L. Hartman, Fred Haruda, Deborah Hirtz, Gwendolyn R. Hogan, Guy M. Hunt, Susan T. Iannaccone, Terrie Eleanor Inder, Victor Ionasescu, Katrien Jansen, Yuwu Jiang, Henry J. Kaminski, Shigehiko Kamoshita, Peter B. Kang, David M. Kaufman, Walter E. Kaufmann, Edward M. Kaye, Peter Kellaway, Rhona S. Kelley, Charles Kennedy, Young-Min Kim, Michael Kirby, Adam Kirton, Eliane Kobayashi, Eric H. Kossoff, Michail Koutroumanidis, Lauren Krupp, Bernadette M. Lange, Douglas J. Lanska, Mary Jo Lanska, Paul D. Larsen, Samuel J. Lassoff, John Laterra, Bernard Lemieux, Nicholas J. Lenn, William J. Logan, Elizabeth Lomax, Lawrence D. Longo, A. Lorris Betz, Bala V. Manyam, Warren A. Marks, E. Wayne Massey, Laszlo J. Mate, Ian McKinlay, William T. McLean, Ailsa McLellan, Mark F. Mehler, Johannes C. Melchior, David J. Michelson, Steven P. Miller, Suzanne L. Miller, J. Gordon Millichap, Robert A. Minns, Eli M. Mizrahi, Ann B. Moser, Solomon L. Moshé, Hiltrud Muhle, Francesco Muntoni, Sakkubai Naidu, Vinodh Narayanan, Nardo Nardocci, Jeffrey J. Neil, Ann Neumeyer, Michael J. Noetzel, Yoshiko Nomura, Douglas R. Nordli, Kathryn North, Yoko Ohtsuka, Finbar J.K. O’Callaghan, Roger J. Packer, Gregory M. Pastores, Marc C. Patterson, Phillip L. Pearl, Michel Philippart, Helena S. Pihko, Gordon Piller, Thomas F. Platz, Annapurna Poduri, Michael A. Pollack, Brenda E. Porter, Michèle Provis, Dietz Rating, Harold Reich, Bernd Remler, Jong M. Rho, Peter Richards, Edward P. Richardson, Sylvia O. Richardson, E. Steve Roach, Arthur L. Rose, Marvin P. Rozear, Lucien J. Rubinstein, Robert S. Rust, Arushi Gahlot Saini, Suzanne Saint-Anne Dargassies, Harvey B. Sarnat, Mohammad Sarwar, Richard Satran, Sanford Schneider, Waltraud Schrank, Rodney C. Scott, Syndi Seinfeld, Duygu Selcen, Nenad Sestan, Steven Shapiro, Elliott H. Sherr, Michael Shevell, Lloyd Shield, Richard L. Sidman, Faye S. Silverstein, Michael Sinnreich, O. Carter Snead, Regan Solomons, Emilio Soria-Duran, Carl E. Stafstrom, E. Steven Roach, Harold Stevens, Hans Michael Strassburg, David A. Stumpf, Thomas Sullivan, Herbert M. Swick, Charles N. Swisher, Takao Takahashi, Ingrid Tein, Laura Tochen, Eva E. Thomas, Alan Thompson, Svinder S. Toor, H. Richard Tyler, Peter Uldall, David K. Urion, Ahsan Moosa Naduvil Valappil, Ronald Van Toorn, Jennifer Vermilion, Doris Vidaver, Betty R. Vohr, Brigitte Vollmer, Joseph J. Volpe, Deborah P. Waber, Mark S. Wainwright, Lucius Waites, Christopher Walsh, Adolf Weindl, Mary Anne Whelan, Larry E. White, Vicky Holets Whittemore, Jo Wilmshurst, Elaine Wirrell, Nicole I. Wolf, Paul Youssef, John Zempel, Huda Y. Zoghbi, Sameer M. Zuberi, and Mary Zupanc

Published
2021
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5. Clinical and genetic analysis of a family with two rare reflex epilepsies.

Author

Kasteleijn-Nolst Trenité DG, Volkers L, Strengman E, Schippers HM, Perquin W, de Haan GJ, Gkountidi AO, van't Slot R, van de Graaf SF, Jocic-Jakubi B, Capovilla G, Covanis A, Parisi P, Veggiotti P, Brinciotti M, Incorpora G, Piccioli M, Cantonetti L, Berkovic SF, Scheffer IE, Brilstra EH, Sonsma AC, Bader AJ, de Kovel CG, and Koeleman BP

Subjects
Adult, Aged, Aged, 80 and over, Family, Female, Humans, Male, Middle Aged, Mutation, Netherlands, Pedigree, Phenotype, Photic Stimulation, RNA Splicing Factors, White People genetics, Young Adult, Carrier Proteins genetics, Epilepsy, Reflex genetics, Epilepsy, Reflex physiopathology
Abstract

Purpose: To determine clinical phenotypes, evolution and genetic background of a large family with a combination of two unusual forms of reflex epilepsies., Method: Phenotyping was performed in eighteen family members (10 F, 8 M) including standardized EEG recordings with intermittent photic stimulation (IPS). Genetic analyses (linkage scans, Whole Exome Sequencing (WES) and Functional studies) were performed using photoparoxysmal EEG responses (PPRs) as affection status., Results: The proband suffered from speaking induced jaw-jerks and increasing limb jerks evoked by flickering sunlight since about 50 years of age. Three of her family members had the same phenotype. Generalized PPRs were found in seven members (six above 50 years of age) with myoclonus during the PPR. Evolution was typical: Sensitivity to lights with migraine-like complaints around adolescence, followed by jerks evoked by lights and spontaneously with dropping of objects, and strong increase of light sensitivity and onset of talking induced jaw jerks around 50 years. Linkage analysis showed suggestive evidence for linkage to four genomic regions. All photosensitive family members shared a heterozygous R129C mutation in the SCNM1 gene that regulates splicing of voltage gated ion channels. Mutation screening of 134 unrelated PPR patients and 95 healthy controls, did not replicate these findings., Conclusion: This family presents a combination of two rare reflex epilepsies. Genetic analysis favors four genomic regions and points to a shared SCNM1 mutation that was not replicated in a general cohort of photosensitive subjects. Further genetic studies in families with similar combination of features are warranted., (Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Published
2015
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6. Therapeutic strategies against epilepsy in Mediterranean countries: a report from an international collaborative survey.

Author

Baldy-Moulinier M, Covanis A, D'urso S, Eskazan E, Fattore C, Gatti G, Herranz JL, Ibrahim S, Khalifa A, Mrabet A, Neufeld MY, and Perucca E

Subjects
Adult, Aged, Algeria, Attitude of Health Personnel, Europe, Female, Health Care Surveys statistics & numerical data, Humans, International Cooperation, Male, Malta, Middle Aged, Middle East, Practice Patterns, Physicians' statistics & numerical data, Secondary Prevention, Tunisia, Anticonvulsants therapeutic use, Drug Utilization statistics & numerical data, Epilepsy drug therapy
Abstract

A collaborative survey was performed to compare prescribing strategies for the treatment of epilepsy in Mediterranean countries, based on analysis of 500 questionnaires compiled by physicians in 14 different countries. For partial seizures, carbamazepine was the drug of choice in most countries, whereas the second choice of drug differed widely. For primarily generalized tonic-clonic seizures, valproic acid was usually preferred, but other drugs used widely in some countries included phenobarbital, phenytoin and carbamazepine. Lamotrigine was the most popular second-line drug for primarily generalized tonic-clonic seizures in the European countries. In patients where the initial drug failed, switching to an alternative monotherapy was usually the preferred strategy, but advocates of early use of combination therapy exceeded 30% in the respondents of seven countries. Most respondents, in all countries except Turkey, did not prescribe drugs to prevent recurrence of febrile seizures; however, intermittent prophylaxis with a benzodiazepine was advocated by a considerable number of physicians, and continuous prophylaxis was prescribed by a significant minority of respondents in France, Syria and Tunisia. New drugs were rarely used as first-line treatment due to high cost and inadequate experience. Overall, this survey indicates that there is a wide variability in therapeutic practices between and within countries. This information may be useful for the implementation of national educational activities and for the design of pragmatic trials aimed at comparing different therapeutic strategies.

Published
1998
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7. Absence epilepsy: early prognostic signs.

Author

Covanis A, Skiadas K, Loli N, Lada C, and Theodorou V

Subjects
Adolescent, Child, Child, Preschool, Drug Therapy, Combination, Educational Status, Electroencephalography drug effects, Epilepsy, Absence drug therapy, Epilepsy, Absence genetics, Epilepsy, Tonic-Clonic drug therapy, Epilepsy, Tonic-Clonic genetics, Female, Humans, Male, Prognosis, Recurrence, Risk Factors, Seizures, Febrile diagnosis, Seizures, Febrile drug therapy, Seizures, Febrile genetics, Epilepsy, Absence diagnosis, Epilepsy, Tonic-Clonic diagnosis
Abstract

We have studied 124 children with typical absence epilepsy. The onset of symptoms was in 12% under 4 years, in 51% between 4-8 years and in 37% above 8 years. The F:M ratio was 2:1 in children under 4 years versus 1:1 above 8 years. Absences alone occurred in 82% and absences followed or preceded by generalized tonic-clonic seizures (GTCS) in 6.5% and 11%, respectively. Simple absences were not seen in children under 4 years and were more frequent (14%) in the 4-8 years age group. Family history was positive for epilepsy in 20% and febrile convulsion in 7%. Sixteen percent had a positive past history of febrile convulsions. All patients showed bilateral, synchronous spike-wave discharges from 2.5 to 4 c/s. Lateralized spikes, spike-slow wave complexes were found in 27%. Photosensitivity was present in 18% and was marked in 12%. Monotherapy with sodium valproate or ethosuximide (91% SV) was successful in 85% of patients with absences alone and 68% of the absences with GTCS. Only 2% were not fully controlled either on monotherapy or polytherapy. Treatment was withdrawn in 41 patients and 13 relapsed. We have identified four factors associated with relapses: (a) poor initial response to treatment, (b) lateralized focal EEG abnormality and/or marked photosensitivity, (c) the evolution to myoclonic epilepsy, and (d) early withdrawal of AED (< 3 years).

Published
1992
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