epileptic encephalopathy

  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
    Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
  • 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
  • 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