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3. CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Author

Suzuki, Toshimitsu, Tatsukawa, Tetsuya, Sudo, Genki, Delandre, Caroline, Pai, Yun Jin, Miyamoto, Hiroyuki, Raveau, Matthieu, Shimohata, Atsushi, Ohmori, Iori, Hamano, Shin-ichiro, Haginoya, Kazuhiro, Uematsu, Mitsugu, Takahashi, Yukitoshi, Morimoto, Masafumi, Fujimoto, Shinji, Osaka, Hitoshi, Oguni, Hirokazu, Osawa, Makiko, Ishii, Atsushi, Hirose, Shinichi, Kaneko, Sunao, Inoue, Yushi, Moore, Adrian Walton, and Yamakawa, Kazuhiro

Published
2022
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4. 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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9. 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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11. Efficacy of perampanel by etiology in Japanese patients with epilepsy—subpopulation analysis of a prospective post‐marketing observational study.

Author

Nakai, Miku, Nishimoto, Shohei, Higashibeppu, Yoichi, and Inoue, Yushi

Subjects
DRUG side effects, SEIZURES (Medicine), PEOPLE with epilepsy, PERAMPANEL, JAPANESE people
Abstract

Objective: To examine the efficacy and safety of perampanel (PER) in patients with post‐stroke epilepsy (PSE), brain tumor‐related epilepsy (BTRE), and post‐traumatic epilepsy (PTE) using Japanese real‐world data. Methods: The prospective post‐marketing observational study included patients with focal seizures with or without focal to bilateral tonic–clonic seizures who received PER combination therapy. The observation period was 24 or 52 weeks after the initial PER administration. The safety and efficacy analysis included 3716 and 3272 patients, respectively. This post hoc analysis examined responder rate (50% reduction in seizure frequency), seizure‐free rate (proportion of patients who achieved seizure‐free), and safety in patients included in the post‐marketing study who had PSE, BTRE, and PTE in the 4 weeks prior to the last observation. Results: Overall, 402, 272, and 186 patients were included in the PSE, BTRE, and PTE subpopulations, and 2867 controls in the "Other" population (etiologies other than PSE, BTRE, or PTE). Mean modal dose (the most frequently administered dose) values at 52 weeks were 3.38, 3.36, 3.64, and 4.04 mg/day for PSE, BTRE, PTE, and "Other," respectively; PER retention rates were 56.2%, 54.0%, 52.6%, and 59.7%, respectively. Responder rates (% [95% confidence interval]) were 82% (76.3%–86.5%), 78% (70.8%–83.7%), 67% (56.8%–75.6%), and 50% (47.9%–52.7%) for PSE, BTRE, PTE, and "Other," respectively, and seizure‐free rates were 71% (64.5%–76.5%), 62% (54.1%–69.0%), 50% (40.6%–60.4%), and 28% (25.8%–30.1%), respectively. Adverse drug reactions tended to occur less frequently in the PSE (14.7%), BTRE (16.5%), and PTE (16.7%) subpopulations than in the "Other" population (26.3%). Significance: In real‐world clinical conditions, efficacy and tolerability for PER combination therapy were observed at low PER doses for the PSE, BTRE, and PTE subpopulations. Plain Language Summary: To find out how well the medication perampanel works and whether it is safe for people who have epilepsy after having had a stroke, brain tumor, or head injury, we used information from real‐life medical situations in Japan. We looked at the data of about 3700 Japanese patients with epilepsy who were treated with perampanel. We found that perampanel was used at lower doses and better at controlling seizures, and had fewer side effects for patients with epilepsy caused by these etiologies than the control group. [ABSTRACT FROM AUTHOR]

Published
2024
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16. 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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19. Efficacy, safety, and tolerability of adjunctive brivaracetam in adult Asian patients with uncontrolled focal‐onset seizures: A phase III randomized, double‐blind, placebo‐controlled trial.

Author

Inoue, Yushi, Tiamkao, Somsak, Zhou, Dong, Cabral‐Lim, Leonor, Lim, Kheng Seang, Lim, Shih‐Hui, Tsai, Jing‐Jane, Moseley, Brian, Wang, Lin, Sun, Weiwei, Hayakawa, Yoshinobu, Sasamoto, Hiroshi, Sano, Tomonobu, McClung, Carrie, and Bass, Almasa

Subjects
SEIZURES (Medicine), ASIANS, PEOPLE with epilepsy, PHENOBARBITAL, TREATMENT effectiveness, SAFETY, PLACEBOS
Abstract

Objective: Evaluate efficacy, safety, and tolerability of adjunctive brivaracetam (BRV) in adult Asian patients with focal‐onset seizures (FOS). Methods: Phase III, randomized, double‐blind, placebo‐controlled study (EP0083; NCT03083665) evaluating BRV 50 mg/day and 200 mg/day in patients (≥16–80 years) with FOS with/without secondary generalization (focal to bilateral tonic–clonic seizures) despite current treatment with 1 or 2 concomitant antiseizure medications. Following an 8‐week baseline, patients were randomized 1:1:1 to placebo, BRV 50 mg/day, or BRV 200 mg/day, and entered a 12‐week treatment period. Efficacy outcomes: percent reduction over placebo in 28‐day FOS frequency (primary); 50% responder rate in FOS frequency; median percent reduction in FOS frequency from baseline; seizure freedom during treatment period (secondary). Primary safety endpoints: incidences of treatment‐emergent adverse events (TEAEs); TEAEs leading to discontinuation; serious TEAEs. Results: In this study, 448/449 randomized patients (mean age, 34.5 years; 53.8% female) received ≥1 dose of study medication (placebo/BRV 50 mg/BRV 200 mg/day: n = 149/151/148). Percent reduction over placebo in 28‐day adjusted FOS frequency was 24.5% (p = 0.0005) and 33.4% (p < 0.0001) with BRV 50 mg/day and 200 mg/day, respectively, 50% responder rate was 19.0%, 41.1%, and 49.3% with placebo, BRV 50 mg/day, and BRV 200 mg/day, respectively (p < 0.0001 for both BRV groups vs. placebo). Median percent reduction in FOS frequency from baseline was 21.3%/38.9%/46.7% in patients on placebo/BRV 50 mg/BRV 200 mg/day, respectively. Overall, 0, 7 (4.6%), and 10 (6.8%) patients were classified as seizure‐free during the treatment period on placebo, BRV 50 mg/day, and BRV 200 mg/day, respectively (p = 0.0146/p = 0.0017 for BRV 50 mg/200 mg/day vs. placebo, respectively). TEAE incidences were similar between patients on placebo (58.4%) and all patients receiving BRV (58.5%); TEAE incidences for BRV 50 mg/day and BRV 200 mg/day were 57.0% and 60.1%, respectively. Overall, 0.7% of patients on placebo and 2.0% of all patients on BRV reported serious TEAEs (incidences for BRV 50 mg/day and BRV 200 mg/day were 1.3% and 2.7%, respectively), 20.1% of patients on placebo and 33.1% of all patients on BRV reported drug‐related TEAEs (incidences for BRV 50 mg/day and BRV 200 mg/day were 26.5% and 39.9%, respectively), and 4.7% of patients on placebo and 3.0% of all patients on BRV discontinued due to TEAEs (discontinuation incidences for BRV 50 mg/day and BRV 200 mg/day were 2.6% and 3.4%, respectively). Significance: Adjunctive BRV was efficacious and well tolerated in adult Asian patients with FOS. Efficacy and safety profiles were consistent with BRV studies in predominantly non‐Asian populations. Plain Language Summary: Brivaracetam is used to treat partial or focal seizures in people with epilepsy. Most studies with brivaracetam tablets have involved people from non‐Asian racial backgrounds. In this study, 449 Asian adults with epilepsy took part. One third took 50 mg of brivaracetam, one third took 200 mg of brivaracetam, and one third took a placebo each day for 12 weeks. On average, those who took brivaracetam had fewer seizures than those given the placebo. Most of the side effects were mild and the number and type of side effects seen were as expected for this medication. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

Author

Kushima, Itaru, Aleksic, Branko, Nakatochi, Masahiro, Shimamura, Teppei, Okada, Takashi, Uno, Yota, Morikawa, Mako, Ishizuka, Kanako, Shiino, Tomoko, Kimura, Hiroki, Arioka, Yuko, Yoshimi, Akira, Takasaki, Yuto, Yu, Yanjie, Nakamura, Yukako, Yamamoto, Maeri, Iidaka, Tetsuya, Iritani, Shuji, Inada, Toshiya, Ogawa, Nanayo, Shishido, Emiko, Torii, Youta, Kawano, Naoko, Omura, Yutaka, Yoshikawa, Toru, Uchiyama, Tokio, Yamamoto, Toshimichi, Ikeda, Masashi, Hashimoto, Ryota, Yamamori, Hidenaga, Yasuda, Yuka, Someya, Toshiyuki, Watanabe, Yuichiro, Egawa, Jun, Nunokawa, Ayako, Itokawa, Masanari, Arai, Makoto, Miyashita, Mitsuhiro, Kobori, Akiko, Suzuki, Michio, Takahashi, Tsutomu, Usami, Masahide, Kodaira, Masaki, Watanabe, Kyota, Sasaki, Tsukasa, Kuwabara, Hitoshi, Tochigi, Mamoru, Nishimura, Fumichika, Yamasue, Hidenori, Eriguchi, Yosuke, Benner, Seico, Kojima, Masaki, Yassin, Walid, Munesue, Toshio, Yokoyama, Shigeru, Kimura, Ryo, Funabiki, Yasuko, Kosaka, Hirotaka, Ishitobi, Makoto, Ohmori, Tetsuro, Numata, Shusuke, Yoshikawa, Takeo, Toyota, Tomoko, Yamakawa, Kazuhiro, Suzuki, Toshimitsu, Inoue, Yushi, Nakaoka, Kentaro, Goto, Yu-ichi, Inagaki, Masumi, Hashimoto, Naoki, Kusumi, Ichiro, Son, Shuraku, Murai, Toshiya, Ikegame, Tempei, Okada, Naohiro, Kasai, Kiyoto, Kunimoto, Shohko, Mori, Daisuke, Iwata, Nakao, and Ozaki, Norio

Published
2018
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23. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Author

Faravelli, Francesca, Pantaleoni, Chiara, Robert-Gnansia, Elisabeth, Cabral-Lim, Leonor, Čebular, Boštjan, De Marinis, Alejandro, Kälviäinen, Reetta, Khomeriki, Ketevan, Kiteva-Trencevska, Gordana, Kochen, Silvia, Kurthen, Martin, Luef, Gerhard, Martinez Ferri, Meritxell, Milovanović, Maja, Nakken, Karl Otto, Neufeld, Miri, Ohtani, Hideyuki, Russell, Aline, Safcák, Vladimír, Schmitz, Bettina, Specchio, Luigi Maria, Tettenborn, Barbara, van Puijenbroek, Eugene, Yu, Hsiang-Yu, Zarubova, Jana, Albretsen, Claus, Alvestad, Silje, Andersen, Noemi Becser, Antonini, Luisa, Arentsen, Jens, Aurlien, Dag, Barzinji, Ismael, Becerra Cuñat, Juan Luis, Bohorquez Morera, Natalia, Brodie, Martin J., Brodtkorb, Eylert, Broglio, Laura, Bruun Christensen, Elsebeth, Bušek, Petr, Cagnetti, Claudia, Canevini, Maria Paola, Carius, Astrid, Castro Vilanova, Maria Dolores, Cecconi, Michela, Chang, T-Y, Christensen, Jakob, De Maria, Giovanni, Dennig, Dieter, Diputado, Brenda, Ertresvåg, Janne Marit, Escartin, Toni, Flügel, Dominique, Forsom Sondal, Birgitte, Foschi, Nicoletta, Franza, Albertina, Fukushima, Katsuyuki, Gambardella, Antonio, Garamendi Ruiz, Iñigo, Gauffin, Helena, Gellert, Pia, Gjerstad, Leif, Gordon, Lisa, Haggag, Katrine, Halawa, Imad, Heikinheimo-Connell, Terttu, Hendgen, Tim, Hertz, Zarouhi, Hildenhagen, Odo, Hödl, Stephanie, Hogenesch, Ineke, Huuse Farmen, Anette, Inoue, Yushi, Juhl, Stefan, Kato, Masaaki, Kenou Van Rijckevorssel, Germaine, Kluck, E., Krijtová, Hana, Kumlien, Eva, Labate, Angelo, Lasch, Theresa, Lindsten, Hans, Listonova, Renata, Lossius, Rasmus, Lundgren, Anders, Malmgren, Kristina, Marečková, Iva, Marino, Daniela, Mattsson, Peter, McGonigal, Aileen, Miesczanleh, Katarzyna, Mizobuchi, Masahiro, Mostacci, Barbara, Müffelmann, Birgit, Navn, Uden, Nilsson, Anders, Oehl, Bernhard, Ortenzi, Andrea, Osseforth, Judith, Paggi, Aldo, Pastor, Eliana, Pedersen, Birthe, Petrenaite, Vaiva, Pignatta, Pietro, Pires, Isabel, Pistelli, Alessandra, Riuz Gimenez, Jesús Antonio, Rocchi, Raffaele, Rodam, Lone, Roivainen, Reina, Rytířová, Gisela, Samsonsen, Christian, Sansa Fayos, Gemma, Saukkonen, Anna Maija, Sikiric, Alma, Sopelana Garay, David, Steinhoff, Bernhard, Strandberg, Maria, Svendsen, Torleiv, Tauboll, Erik, Terada, Kiyohito, Trivisano, Marina, Turner, Katherine, Worm, Mogens, Zakharia, Elias, Zambrelli, Elena, Zarifi-Oskoie, Morteza, Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, and Vajda, Frank

Published
2018
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28. Intravenous perampanel as an alternative to the oral formulations in Japanese patients with epilepsy

Author

Hanaya, Ryosuke, primary, Kubota, Yuichi, additional, Mizobuchi, Masahiro, additional, Iida, Koji, additional, Ono, Tomonori, additional, Motooka, Hiromichi, additional, Nakano, Naoki, additional, Fujimoto, Ayataka, additional, Iwasaki, Masaki, additional, Fukuda, Masafumi, additional, Kondo, Akihiko, additional, Uruno, Katsuhisa, additional, Yamamuro, Shintaro, additional, Yamaguchi, Kohei, additional, Onishi, Kisaki, additional, Ngo, Leock Y, additional, and Inoue, Yushi, additional

Published
2023
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32. Status of epilepsy care delivery and referral in clinics, hospitals, and epilepsy centers in Japan: A nationwide survey.

Author

Tokumoto, Kentaro, Terada, Kiyohito, Kawaguchi, Norihiko, Nishida, Takuji, Yamano, Mitsuhiko, Aoyagi, Tomoo, Tadokoro, Yuji, Usui, Naotaka, and Inoue, Yushi

Subjects
EPILEPSY, CLINICS, HEALTH facilities, MEDICAL care, PSYCHIATRIC clinics, PEOPLE with epilepsy, EPILEPSY surgery
Abstract

Objective: Collaboration among medical facilities is crucial to deliver comprehensive epilepsy care to a diverse and large population of people with epilepsy. We conducted a survey among medical facilities of various sizes throughout Japan to investigate the status of epilepsy care delivery, functioning, and referral. Methods: With the cooperation of the Japan Neurological Society (1428 facilities), Japanese Neurosurgical Society (3489 specialists), and Epilepsy Care Network (948 facilities), a questionnaire was mailed to 5865 locations that provide epilepsy care in Japan. The facilities were classified into clinics (19 beds or less), small hospitals (SH, 20–199 beds), large hospitals (LH, 200 beds or more), and epilepsy centers (EC). The status of epilepsy care delivery, functioning, and referral was compared among the four groups. Results: Responses were received from 1014 facilities (17.3% response rate). After excluding duplicate responses, 957 facilities were analyzed (394 clinics, 149 SH, 388 LH, 26 EC). EC responded "manageable" in more items of epilepsy care functions in general, especially those related to epilepsy surgery, compared to LH with similar facility size. However, EC responded being less manageable in psychiatric service (61.5%), dietary therapy (46.2%), rehabilitation (53.8%), and patient employment support (61.5%). The percentage of facilities that responded "always able to refer" was highest in clinics (67.6%) and the lowest in EC (40%). Referral difficulties were more commonly encountered in EC, and less common in clinics. In EC, the most common reason for inability to refer was patient or family refusal (64%). Significance: We have clarified the epilepsy care delivery, functioning, and referral in facilities of various sizes in Japan. This study highlights the issues of downward referral and patient stagnation in EC, which have not received much attention. Plain Language Summary: A nationwide survey of healthcare facilities ranging in size from small clinics to large hospitals in Japan examined medical care delivery and patient referrals related to epilepsy. Compared to other facilities, epilepsy centers provided a variety of medical services to people with epilepsy but were inadequate in addressing psychiatric symptoms, providing dietary therapy, rehabilitation, and patient employment support. Referrals from epilepsy centers to other medical facilities were often refused by patients and their families. This results in patient crowding at epilepsy centers [ABSTRACT FROM AUTHOR]

Published
2024
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46. Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy

Author

Bailey, Julia N., de Nijs, Laurence, Bai, Dongsheng, Suzuki, Toshimitsu, Miyamoto, Hiroyuki, Tanaka, Miyabi, Patterson, Christopher, Lin, Yu-Chen, Medina, Marco T., Alonso, María E., Serratosa, José M., Durón, Reyna M., Nguyen, Viet H., Wight, Jenny E., Martínez-Juárez, Iris E., Ochoa, Adriana, Jara-Prado, Aurelio, Guilhoto, Laura, Molina, Yolly, Yacubian, Elsa M., López-Ruiz, Minerva, Inoue, Yushi, Kaneko, Sunao, Hirose, Shinichi, Osawa, Makiko, Oguni, Hirokazu, Fujimoto, Shinji, Grisar, Thierry M., Stern, John M., Yamakawa, Kazuhiro, Lakaye, Bernard, and Delgado-Escueta, Antonio V.

Published
2018
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47. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Author

Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, and Rauch, Anita

Published
2019
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