Epilepsy and seizures

  • 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
  • Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
    Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, Maher Shahrour, Anik St-Denis, Avraham Shaag, Nadira Damseh, Françoise Le Deist, Yenan Bryceson, Bassam Abu-Libdeh, Philippe M Campeau, Taroh Kinoshita, Orly Elpeleg
  • De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
    Esther R Berko, Megan T Cho, Christine Eng, Yunru Shao, David A Sweetser, Jessica Waxler, Nathaniel H Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G Bönnemann, Martin Bialer, Christine Moore, Lynne A Wolfe, Cynthia J Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K Chung
  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
  • Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
    Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier
  • The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
    Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, Josef Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Anton Gamero, Elena Garcia-Martinez, Hana Kratochvílová, Saikat Santra, Ruth M Brown, Garry K Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhan O'Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy Goldstein, Julie Vogt, Robert W Taylor, Robert McFarland
  • Mutations in HECW2 are associated with intellectual disability and epilepsy
    Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk
  • Erratum: Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
  • Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
    Hanna Mandel, Shotaro Saita, Simon Edvardson, Chaim Jalas, Avraham Shaag, Dorit Goldsher, Euvgeni Vlodavsky, Thomas Langer, Orly Elpeleg
  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke, Ingo Borggraefe, Dorota Hoffmann-Zacharska, Elżbieta Szczepanik, Mariola Rudzka-Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Riess, Stefanie Beck-Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, Mikhail Mironov, Maria Bobylova, Konstantin Mukhin, Laura Hernandez-Hernandez, Bridget Maher, Sanjay Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T Myers, Heather C Mefford, Konstanze Hörtnagel, Saskia Biskup, EuroEPINOMICS-RES MAE working group, Johannes R Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

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