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SaveShare Save Share Save Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series
Kobayashi, Yu; Sakuma, Satoru; Morimoto, Emiko; Fujii, Hitomi; Yamada, Kei; Hojo, Moemi; Miura, Masaki; Tohyama, Jun; Miya, Fuyuki; Kato, Mitsuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi Share Save Share Save CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignaturevan der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter Share Save Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencingKomatsu, Kazuyuki; Kato, Mitsuhiro; Kubota, Kazuo; Fukumura, Shinobu; Yamada, Keitaro; Hori, Ikumi; Shimizu, Kenji; Miyamoto, Sachiko; Yamoto, Kaori; Hiraide, Takuya; Watanabe, Kazuki; Aoki, Shintaro; Furukawa, Shogo; Hayashi, Taiju; Isogai, Masaharu; Harasaki, Takuma; Nakashima, Mitsuko; Saitsu, Hirotomo Share Save Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysisWatanabe, Daisuke; Okamoto, Nobuhiko; Kobayashi, Yuichi; Suzuki, Hisato; Kato, Mitsuhiro; Saitoh, Shinji; Kanemura, Yonehiro; Takenouchi, Toshiki; Yamada, Mamiko; Nakato, Daisuke; Sato, Masayuki; Tsunoda, Tatsuhiko; Kosaki, Kenjiro; Miya, Fuyuki Share Save Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disordersConecker, Gabrielle; Xia, Maya Y.; Hecker, JayEtta; Achkar, Christelle; Cukiert, Cristine; Devries, Seth; Donner, Elizabeth; Fitzgerald, Mark P.; Gardella, Elena; Hammer, Michael; Hegde, Anaita; Hu, Chunhui; Kato, Mitsuhiro; Luo, Tian; Schreiber, John M.; Wang, Yi; Kooistra, Tammy; Oudin, Madeleine; Waldrop, Kayla; Youngquist, J. Tyler; Zhang, Dennis; Wirrell, Elaine; Perry, M. Scott Share Save Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disordersConecker, Gabrielle; Xia, Maya Y.; Hecker, JayEtta; Achkar, Christelle; Cukiert, Cristine; Devries, Seth; Donner, Elizabeth; Fitzgerald, Mark; Gardella, Elena; Hammer, Michael; Hegde, Anaita; Hu, Chunhui; Kato, Mitsuhiro; Luo, Tian; Schreiber, John M.; Wang, Yi; Kooistra, Tammy; Oudin, Madeleine; Waldrop, Kayla; Youngquist, J. Tyler; Zhang, Dennis; Wirrell, Elaine; Perry, M. Scott Share Save GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architectureStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar Share Save Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndromeNabatame, Shin; Tanigawa, Junpei; Tominaga, Koji; Kagitani-Shimono, Kuriko; Yanagihara, Keiko; Imai, Katsumi; Ando, Toru; Tsuyusaki, Yu; Araya, Nami; Matsufuji, Mayumi; Natsume, Jun; Yuge, Kotaro; Bratkovic, Drago; Arai, Hiroshi; Okinaga, Takeshi; Matsushige, Takeshi; Azuma, Yoshiteru; Ishihara, Naoko; Miyatake, Satoko; Kato, Mitsuhiro; Matsumoto, Naomichi; Okamoto, Nobuhiko; Takahashi, Satoru; Hattori, Satoshi; Ozono, Keiichi Share Save Molecular diagnosis of 405 individuals with autism spectrum disorderMiyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi Share Save An integrated genetic analysis of epileptogenic brain malformed lesionsFujita, Atsushi; Kato, Mitsuhiro; Sugano, Hidenori; Iimura, Yasushi; Suzuki, Hiroharu; Tohyama, Jun; Fukuda, Masafumi; Ito, Yosuke; Baba, Shimpei; Okanishi, Tohru; Enoki, Hideo; Fujimoto, Ayataka; Yamamoto, Akiyo; Kawamura, Kentaro; Kato, Shinsuke; Honda, Ryoko; Ono, Tomonori; Shiraishi, Hideaki; Egawa, Kiyoshi; Shirai, Kentaro; Yamamoto, Shinji; Hayakawa, Itaru; Kawawaki, Hisashi; Saida, Ken; Tsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Miyatake, Satoko; Mizuguchi, Takeshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Miyake, Noriko; Kakita, Akiyoshi; Matsumoto, Naomichi Share Save Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophySakamoto, Masamune; Iwama, Kazuhiro; Sasaki, Masayuki; Ishiyama, Akihiko; Komaki, Hirofumi; Saito, Takashi; Takeshita, Eri; Shimizu-Motohashi, Yuko; Haginoya, Kazuhiro; Kobayashi, Tomoko; Goto, Tomohide; Tsuyusaki, Yu; Iai, Mizue; Kurosawa, Kenji; Osaka, Hitoshi; Tohyama, Jun; Kobayashi, Yu; Okamoto, Nobuhiko; Suzuki, Yume; Kumada, Satoko; Inoue, Kenji; Mashimo, Hideaki; Arisaka, Atsuko; Kuki, Ichiro; Saijo, Harumi; Yokochi, Kenji; Kato, Mitsuhiro; Inaba, Yuji; Gomi, Yuko; Saitoh, Shinji; Shirai, Kentaro; Morimoto, Masafumi; Izumi, Yuishin; Watanabe, Yoriko; Nagamitsu, Shin-ichiro; Sakai, Yasunari; Fukumura, Shinobu; Muramatsu, Kazuhiro; Ogata, Tomomi; Yamada, Keitaro; Ishigaki, Keiko; Hirasawa, Kyoko; Shimoda, Konomi; Akasaka, Manami; Kohashi, Kosuke; Sakakibara, Takafumi; Ikuno, Masashi; Sugino, Noriko; Yonekawa, Takahiro; Gursoy, Semra; Cinleti, Tayfun; Kim, Chong Ae; Teik, Keng Wee; Yan, Chan Mei; Haniffa, Muzhirah; Ohba, Chihiro; Ito, Shuuichi; Saitsu, Hirotomo; Saida, Ken; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Miyake, Noriko; Matsumoto, Naomichi Share Save A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeMarafi, Dana; Kozar, Nina; Duan, Ruizhi; Bradley, Stephen; Yokochi, Kenji; Al Mutairi, Fuad; Saadi, Nebal Waill; Whalen, Sandra; Brunet, Theresa; Kotzaeridou, Urania; Choukair, Daniela; Keren, Boris; Nava, Caroline; Kato, Mitsuhiro; Arai, Hiroshi; Froukh, Tawfiq; Faqeih, Eissa Ali; AlAsmari, Ali M.; Saleh, Mohammed M.; Vairo, Filippo Pinto E.; Pichurin, Pavel N.; Klee, Eric W.; Schmitz, Christopher T.; Grochowski, Christopher M.; Mitani, Tadahiro; Herman, Isabella; Calame, Daniel G.; Fatih, Jawid M.; Du, Haowei; Coban-Akdemir, Zeynep; Pehlivan, Davut; Jhangiani, Shalini N.; Gibbs, Richard A.; Miyatake, Satoko; Matsumoto, Naomichi; Wagstaff, Laura J.; Posey, Jennifer E.; Lupski, James R.; Meijer, Dies; Wagner, Matias Share Save Share Save Monogenic causes of pigmentary mosaicismSaida, Ken; Chong, Pin Fee; Yamaguchi, Asuka; Saito, Naka; Ikehara, Hajime; Koshimizu, Eriko; Miyata, Rie; Ishiko, Akira; Nakamura, Kazuyuki; Ohnishi, Hidenori; Fujioka, Kei; Sakakibara, Takafumi; Asada, Hideo; Ogawa, Kohei; Kudo, Kyoko; Ohashi, Eri; Kawai, Michiko; Abe, Yuichi; Tsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Fujita, Atsushi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Kato, Mitsuhiro; Kira, Ryutaro; Matsumoto, Naomichi Share Save 
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