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Epilepsy and seizures

  • SETD1B-associated neurodevelopmental disorder
    Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study
    Journal of Medical Genetics Mar 2021, 58 (3) 196-204; DOI: 10.1136/jmedgenet-2019-106756
  • Prenatal clinical manifestations in individuals with COL4A1/2 variants
    Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki, Noriko Togashi, Teruyuki Ishikura, Makoto Kinoshita, Yusuke Mitani, Yonehiro Kanemura, Tsuyoshi Omi, Naoki Ando, Ayako Hattori, Shinji Saitoh, Yukihiro Kitai, Satori Hirai, Hiroshi Arai, Fumihiko Ishida, Hidetoshi Taniguchi, Yasuji Kitabatake, Keiichi Ozono, Shin Nabatame, Robert Smigiel, Mitsuhiro Kato, Koichi Tanda, Yoshihiko Saito, Akihiko Ishiyama, Yushi Noguchi, Mazumi Miura, Takaaki Nakano, Keiko Hirano, Ryoko Honda, Ichiro Kuki, Jun-ichi Takanashi, Akihito Takeuchi, Tatsuya Fukasawa, Chizuru Seiwa, Atsuko Harada, Yusuke Yachi, Hiroyuki Higashiyama, Hiroshi Terashima, Tadayuki Kumagai, Satoshi Hada, Yoshiichi Abe, Etsuko Miyagi, Yuri Uchiyama, Atsushi Fujita, Eri Imagawa, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
    Journal of Medical Genetics Aug 2021, 58 (8) 505-513; DOI: 10.1136/jmedgenet-2020-106896
  • Defining the phenotypical spectrum associated with variants in TUBB2A
    Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs
    Journal of Medical Genetics Jan 2021, 58 (1) 33-40; DOI: 10.1136/jmedgenet-2019-106740
  • Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
    Martin Krenn, Matias Wagner, Christoph Hotzy, Elisabeth Graf, Sandrina Weber, Theresa Brunet, Bettina Lorenz-Depiereux, Gregor Kasprian, Susanne Aull-Watschinger, Ekaterina Pataraia, Elisabeth Stogmann, Alexander Zimprich, Tim M Strom, Thomas Meitinger, Fritz Zimprich
    Journal of Medical Genetics Sep 2020, 57 (9) 624-633; DOI: 10.1136/jmedgenet-2019-106658
  • Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
    Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal
    Journal of Medical Genetics Sep 2018, 55 (9) 607-616; DOI: 10.1136/jmedgenet-2018-105319
  • De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
    Annalisa G Sega, Emily K Mis, Kristin Lindstrom, Saadet Mercimek-Andrews, Weizhen Ji, Megan T Cho, Jane Juusola, Monica Konstantino, Lauren Jeffries, Mustafa K Khokha, Saquib Ali Lakhani
    Journal of Medical Genetics Feb 2019, 56 (2) 113-122; DOI: 10.1136/jmedgenet-2018-105322
  • PEHO syndrome: the endpoint of different genetic epilepsies
    Manali Chitre, Michael S Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L Wakeling, Angela F Brady, Sameer M Zuberi, Mohnish Suri, Alasdair P J Parker, C Geoffrey Woods
    Journal of Medical Genetics Dec 2018, 55 (12) 803-813; DOI: 10.1136/jmedgenet-2018-105288
  • PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
    Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The DDD study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle
    Journal of Medical Genetics Feb 2018, 55 (2) 104-113; DOI: 10.1136/jmedgenet-2017-104946
  • A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
    Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose
    Journal of Medical Genetics Mar 2017, 54 (3) 202-211; DOI: 10.1136/jmedgenet-2016-104083
  • KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
    Chiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron
    Journal of Medical Genetics Apr 2016, 53 (4) 217-225; DOI: 10.1136/jmedgenet-2015-103508

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