Article
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Mignot Cyril, McMahon Aoife C, Bar Claire, Campeau Philippe M, Davidson Claire, Buratti Julien, Nava Caroline, Jacquemont Marie-Line, Tallot Marilyn, Milh Mathieu, Edery Patrick, Marzin Pauline, Barcia Giulia, Barnerias Christine, Besmond Claude, Bienvenu Thierry, Bruel Ange-Line, Brunga Ledia, Ceulemans Berten, Coubes Christine, Cristancho Ana G, Cunningham Fiona, Dehouck Marie-Bertille, Donner Elizabeth J, Duban-Bedu Bénédicte, Dubourg Christèle, Gardella Elena, Gauthier Julie, Geneviève David, Gobin-Limballe Stéphanie, Goldberg Ethan M, Hagebeuk Eveline, Hamdan Fadi F, Hančárová Miroslava, Hubert Laurence, Ioos Christine, Ichikawa Shoji, Janssens Sandra, Journel Hubert, Kaminska Anna, Keren Boris, Koopmans Marije, Lacoste Caroline, Laššuthová Petra, Lederer Damien, Lehalle Daphné, Marjanovic Dragan, Métreau Julia, Michaud Jacques L, Miller Kathryn, Minassian Berge A, Morales Joannella, Moutard Marie-Laure, Munnich Arnold, Ortiz-Gonzalez Xilma R, Pinard Jean-Marc, Prchalová Darina, Putoux Audrey, Quelin Chloé, Rosen Alyssa R, Roume Joelle, Rossignol Elsa, Simon Marleen E H, Smol Thomas, Shur Natasha, Shelihan Ivan, Štěrbová Katalin, Vyhnálková Emílie, Vilain Catheline, Soblet Julie, Smits Guillaume, Yang Samuel P, van der Smagt Jasper J, van Hasselt Peter M, van Kempen Marjan, Weckhuysen Sarah, Helbig Ingo, Villard Laurent, Héron Delphine, Koeleman Bobby, Møller Rikke S, Lesca Gaetan, Helbig Katherine L, Nabbout Rima, Verbeek Nienke E, Depienne Christel
Abstract excerpt
PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant...
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