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9. Telemedicine for Individuals with epilepsy: Recommendations from the International League Against Epilepsy Telemedicine Task Force

Author

Samia, Pauline, Sahu, Jitendra Kumar, Ali, Amza, Caraballo, Roberto Horacio, Chan, Josephine, Coan, Ana Carolina, Fortini, Pablo Sebastián, Gwer, Samson, Jocic-Jakubi, Bosanka, Kissani, Najib, Rivera, Yanin, Sarfo, Fred Stephen, Singh, Mamta Bhushan, Trinka, Eugen, Yoo, Ji Yeoun, Yu, Hsiang-Yu, Zelano, Johan, and Cross, J.Helen

Published
2023
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13. Lamotrigine vs levetiracetam in female patients of childbearing age with juvenile absence epilepsy: A Bayesian reanalysis.

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Gesche, Joanna, Peña‐Ceballos, Javier, Caraballo, Roberto H., Lattanzi, Simona, Strigaro, Gionata, Orlando, Biagio, Moloney, Patrick B., Catania, Cecilia, Ferlazzo, Edoardo, Pascarella, Angelo, Casciato, Sara, Pizzanelli, Chiara, Milano, Chiara, Giuliano, Loretta, Viola, Veronica, Mostacci, Barbara, Fortunato, Francesco, and Pulitano, Patrizia

Subjects
PROPORTIONAL hazards models, CHILDBEARING age, MEDICAL research, IDIOPATHIC diseases, LAMOTRIGINE
Abstract

Objective: Women of childbearing age with juvenile absence epilepsy (JAE) face treatment challenges due to limited access to safe and effective anti‐seizure medications (ASMs). In a previous study we compared the effectiveness of levetiracetam (LEV) and lamotrigine (LTG) in women with idiopathic generalized epilepsy (IGE), highlighting a superiority of LEV in juvenile myoclonic epilepsy. In this study, we specifically reanalyzed, through a Bayesian approach and by expanding the previously published cohort, the comparative effectiveness of these ASMs as initial monotherapy in JAE. Methods: We conducted a multicenter, retrospective, comparative effectiveness study on women of childbearing age diagnosed with JAE and prescribed LEV or LTG as the initial ASM. Inverse probability treatment weighting (IPTW) Bayesian Cox proportional hazard models were employed to evaluate treatment failure (TF) due to ineffectiveness and ASM retention. The patients' center of provenance and year of prescription were considered as random effect factors. Posterior probabilities and relative log‐risk distribution were computed, and the distribution of posterior draws was analyzed to assess the evidence supporting LTG superiority over LEV. Results: Of 123 patients, those treated with LTG (n = 67) demonstrated lower TF and higher ASM retention than those treated with LEV (n = 56), with the IPTW‐weighted Bayesian Cox proportional hazards model showing a 99.2% posterior probability of LTG being superior on TF and a 99.5% probability on ASM retention. Additional analyses on ≥50% and ≥75% seizure reduction through IPTW‐weighted Bayesian logistic regression largely confirmed these findings, whereas the two ASMs did not show evident differences in terms of seizure freedom. The two ASMs showed comparable safety profiles, with only a minority of patients discontinuing treatment due to side effects. Significance: Bayesian reanalysis supports LTG as first‐line monotherapy for JAE in women of childbearing age, emphasizing the importance of individualized treatment strategies in women with IGE. This study underscores the value of Bayesian methods in refining clinical research and treatment decisions. [ABSTRACT FROM AUTHOR]

Published
2024
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14. APORTE DE LA ACADEMIA IBEROAMERICANA DE NEUROPEDIATRÍA AL CONOCIMIENTO DE LA EPILEPSIA AUTOLIMITADA DEL LACTANTE.

Author

CARABALLO, ROBERTO H.

Abstract

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024

17. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group

Author

Kossoff, Eric H, Zupec‐Kania, Beth A, Auvin, Stéphane, Ballaban‐Gil, Karen R, Bergqvist, AG Christina, Blackford, Robyn, Buchhalter, Jeffrey R, Caraballo, Roberto H, Cross, J Helen, Dahlin, Maria G, Donner, Elizabeth J, Guzel, Orkide, Jehle, Rana S, Klepper, Joerg, Kang, Hoon‐Chul, Lambrechts, Danielle A, Liu, YM Christiana, Nathan, Janak K, Nordli, Douglas R, Pfeifer, Heidi H, Rho, Jong M, Scheffer, Ingrid E, Sharma, Suvasini, Stafstrom, Carl E, Thiele, Elizabeth A, Turner, Zahava, Vaccarezza, Maria M, Louw, Elles JTM, Veggiotti, Pierangelo, Wheless, James W, Wirrell, Elaine C, Foundation, The Charlie, Friends, Matthew's, and Society, the Practice Committee of the Child Neurology

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Trials and Supportive Activities, Clinical Research, Complementary and Integrative Health, Nutrition, Charlie Foundation, Matthew's Friends, Practice Committee of the Child Neurology Society, Children, Diet, Epilepsy, Guideline, Ketogenic, Clinical sciences, Neurosciences, Biological psychology
Abstract

Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years KDTs were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline for the management of children on KDT was published, focusing on topics of patient selection, pre-KDT counseling and evaluation, diet choice and attributes, implementation, supplementation, follow-up, side events, and KDT discontinuation. It has been helpful in outlining a state-of-the-art protocol, standardizing KDT for multicenter clinical trials, and identifying areas of controversy and uncertainty for future research. Now one decade later, the organizers and authors of this guideline present a revised version with additional authors, in order to include recent research, especially regarding other dietary treatments, clarifying indications for use, side effects during initiation and ongoing use, value of supplements, and methods of KDT discontinuation. In addition, authors completed a survey of their institution's practices, which was compared to responses from the original consensus survey, to show trends in management over the last 10 years.

Published
2018

27. Abstract 15039: International Multicenter Registry Study of Patients With Variants in ATP1A3-Encoded Sodium-Potassium ATPase 3 Finds an Association With Short QT and Life-Threatening Ventricular Arrhythmias

Author

Moya-Mendez, Mary E, Bidzimou, Minu-Tshyeto, Ezekian, Jordan E, Perelli, Robin M, Parker, Lauren, Prange, Lyndsey, Kim, Jeffrey J, Howard, Taylor S, Reyes Valenzuela, Gabriel, Caraballo, Roberto, Garone, Giacomo, Vigevano, Federico, Weckhuysen, Sarah, Millevert, Charissa, Troncoso, Monica, Matamala, Mario, Balestrini, Simona, Sisodiya, Sanjay, Poole, Josephine, Zucca, Claudio, Panagiotakaki, Eleni, Tchaicha, Sébile, Sauquet, Julie, Zawadzka, Marta, Mazurkiewicz-Beldzinska, Maria, Fons, Carmen, Anticona, Jennifer, De Grandis, Elisa, Groppa, Sergiu, Paryjas, Sandra, Megvinov, Andrey, VAVASSORI, ROSARIA, and Landstrom, Andrew P

Published
2022
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37. 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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41. Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks?

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Mostacci, Barbara, Orlando, Biagio, Gesche, Joanna, Caraballo, Roberto H., Lattanzi, Simona, Strigaro, Gionata, Catania, Cecilia, Pulitano, Patrizia, Panzini, Chiara, Ferlazzo, Edoardo, Pascarella, Angelo, Casciato, Sara, Pizzanelli, Chiara, Giuliano, Loretta, Viola, Veronica, Fortunato, Francesco, Di Gennaro, Giancarlo, and Gambardella, Antonio

Subjects
TERMINATION of treatment, EPILEPSY, TOPIRAMATE, TREATMENT failure, GOVERNMENT agencies
Abstract

Regulatory agencies have recently discouraged the prescription of topiramate (TPM) to women of childbearing potential with epilepsy due to growing evidence of the teratogenic and neurodevelopmental risks associated with its use during pregnancy. It remains, however, unclear whether the use of TPM in this population can be supported to some extent by its high effectiveness. In this multicenter, retrospective, cohort study performed at 22 epilepsy centers, we investigated the comparative effectiveness of TPM and levetiracetam (LEV) given as first‐line antiseizure medication in a cohort of women of childbearing potential with idiopathic generalized epilepsy (IGE). A total of 336 participants were included, of whom 24 (7.1%) received TPM and 312 (92.9%) LEV. Women treated with TPM had significantly higher risks of treatment failure and treatment withdrawal and were less likely to achieve seizure freedom at 12 months compared to women treated with LEV. In conclusion, this study highlighted a low tendency among clinicians to use TPM in women of childbearing potential with IGE, anticipating the recently released restrictions on its use. Furthermore, the available data on effectiveness do not appear to support the use of TPM in this population. [ABSTRACT FROM AUTHOR]

Published
2024
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49. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Author

Cloarec, Robin, Bruneau, Nadine, Rudolf, Gabrielle, Massacrier, Annick, Salmi, Manal, Bataillard, Marc, Boulay, Clotilde, Caraballo, Roberto, Fejerman, Natalio, Genton, Pierre, Hirsch, Edouard, Hunter, Alasdair, Lesca, Gaetan, Motte, Jacques, Roubertie, Agathe, Sanlaville, Damien, Wong, Sau-Wei, Rochette, Jacques, Ptácek, Louis, Szepetowski, Pierre, and Fu, Ying-hui

Subjects
Base Sequence, Chorea, Dyskinesias, Epilepsy, Benign Neonatal, Female, Genetic Linkage, Humans, Infant, Male, Membrane Proteins, Middle Aged, Migraine Disorders, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, Seizures
Abstract

OBJECTIVE: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine. METHODS: We performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate. RESULTS: Two known and 2 novel PRRT2 mutations were detected in 18 families. The p.R217Pfs*8 recurrent mutation was found in ≈50% of typical PKD/IC, and the unreported p.R145Gfs*31 in one more typical family. PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI. Previously reported p.R240X was found in one patient with PKD with migraine without aura. The novel frameshift p.S248Afs*65 was identified in a PKD/IC family member with IC and migraine with aura. CONCLUSIONS: We extend the spectrum of PRRT2 mutations and phenotypes to HM and to other types of migraine in the context of PKD/IC, and emphasize the phenotypic pleiotropy seen in patients with PRRT2 mutations.

Published
2012

50. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Author

Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha DO, Hermann, Mark, Quinn, Emily, Maas, James, Edwards, Robert, Ashizawa, Tetsuo, Baykan, Betul, Bhatia, Kailash, Bressman, Susan, Bruno, Michiko K, Brunt, Ewout R, Caraballo, Roberto, Echenne, Bernard, Fejerman, Natalio, Frucht, Steve, Gurnett, Christina A, Hirsch, Edouard, Houlden, Henry, Jankovic, Joseph, Lee, Wei-Ling, Lynch, David R, Mohammed, Shehla, Müller, Ulrich, Nespeca, Mark P, Renner, David, Rochette, Jacques, Rudolf, Gabrielle, Saiki, Shinji, Soong, Bing-Wen, Swoboda, Kathryn J, Tucker, Sam, Wood, Nicholas, Hanna, Michael, Bowcock, Anne M, Szepetowski, Pierre, Fu, Ying-Hui, and Ptáček, Louis J

Subjects
Central Nervous System, Animals, Humans, Mice, Rats, Seizures, Dystonia, Membrane Proteins, Nerve Tissue Proteins, Pedigree, Sequence Alignment, Sequence Analysis, DNA, Chromosome Segregation, Species Specificity, Amino Acid Sequence, Protein Binding, Phenotype, Mutation, Alleles, Genome, Human, Molecular Sequence Data, Female, Male, Mutant Proteins, Synaptosomal-Associated Protein 25, DNA Copy Number Variations, HEK293 Cells, Neurosciences, Pediatric, Genetics, Biochemistry and Cell Biology, Medical Physiology
Abstract

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.

Published
2012

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