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epilepsy

  • Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
    Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito
    Journal of Medical Genetics Oct 2023, 60 (10) 965-973; DOI: 10.1136/jmg-2022-109132
  • ARF1-related disorder: phenotypic and molecular spectrum
    Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
    Journal of Medical Genetics Oct 2023, 60 (10) 999-1005; DOI: 10.1136/jmg-2022-108803
  • Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
    Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley G Patterson, Raymond Louie, Filippo Pinto e Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva MC Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens
    Journal of Medical Genetics Aug 2023, jmg-2022-109030; DOI: 10.1136/jmg-2022-109030
  • Variants in BSN gene associated with epilepsy with favourable outcome
    Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu
    Journal of Medical Genetics Aug 2023, 60 (8) 776-783; DOI: 10.1136/jmg-2022-108865
  • Clinical and genetic features of GATOR1 complex-associated epilepsy
    Kaili Yin, Xingxing Lei, Zhaofen Yan, Yujiao Yang, Qinqin Deng, Qiang Lu, Xue Zhang, Mengyang Wang, Qing Liu
    Journal of Medical Genetics Aug 2023, 60 (8) 784-790; DOI: 10.1136/jmg-2021-108364
  • Genotypes and phenotypes of DNM1 encephalopathy
    Jeehyun Kim, Lip-Yuen Teng, Bilal Shaker, Dokyun Na, Hyun Yong Koh, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang, Se Hee Kim
    Journal of Medical Genetics May 2023, jmg-2023-109233; DOI: 10.1136/jmg-2023-109233
  • Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier
    Journal of Medical Genetics Sep 2022, 59 (9) 878-887; DOI: 10.1136/jmedgenet-2021-107729
  • Adult phenotype of KCNQ2 encephalopathy
    Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke Steensbjerre Møller, Edward Cooper, Sarah Weckhuysen
    Journal of Medical Genetics Jun 2022, 59 (6) 528-535; DOI: 10.1136/jmedgenet-2020-107449
  • Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
    Ashley Kahen, Haluk Kavus, Alexa Geltzeiler, Catherine Kentros, Cora Taylor, Elizabeth Brooks, LeeAnne Green Snyder, Wendy Chung
    Journal of Medical Genetics Jun 2022, 59 (6) 536-543; DOI: 10.1136/jmedgenet-2021-107694
  • Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
    Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann
    Journal of Medical Genetics Jun 2022, 59 (6) 549-553; DOI: 10.1136/jmedgenet-2021-107769

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