IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot 1, 2 Aoife Mcmahon 3 Claire Bar 4, 5, 6, 7 Philippe Campeau 8 David Davidson 3 Julien Buratti 2 Caroline Nava 2, 1 Marie-Line Jacquemont 9 Marilyn Tallot 9 Mathieu Milh 10 Patrick Edery 11, 12 Pauline Marzin 2 Giulia Barcia 4, 7, 5, 6, 13 Christine Barnerias 14, 4, 7, 6 Claude Besmond 4, 7 Thierry Bienvenu 15, 16, 7, 5, 17 Ange-Line Bruel 18 Ledia Brunga 19 Berten Ceulemans 20 Christine Coubes 21 Ana Cristancho 22 Fiona Cunningham 3 Marie-Bertille Dehouck 23 Elizabeth Donner 19 Bénédicte Duban-Bedu 23 Christèle Dubourg 24 Elena Gardella 25 Julie Gauthier 8 David Genevieve 21, 26 Stéphanie Gobin-Limballe 13, 4 Ethan Goldberg 22 Eveline Hagebeuk Fadi Hamdan 8 Miroslava Hančárová 27 Laurence Hubert 4, 7 Christine Ioos 28 Shoji Ichikawa Sandra Janssens 29 Hubert Journel Anna Kaminska 6 Boris Keren 2 Marije Koopmans 30 Caroline Lacoste 10 Petra Laššuthová 27 Damien Lederer 31 Daphne Lehalle 32, 33 Dragan Marjanovic Julia Metreau 34 Jacques Michaud 8 Kathryn Miller Berge Minassian 19 Joannella Morales 3 Marie-Laure Moutard 35 Arnold Munnich 4, 7, 13, 6, 5 Xilma Ortiz-Gonzalez 22 Jean-Marc Pinard 28 Darina Prchalová 27 Audrey Putoux 12, 11, 36 Chloé Quélin Alyssa Rosen 22 Joëlle Roume 37 Elsa Rossignol 8 Marleen Simon 30 Thomas Smol 38 Natasha Shur Ivan Shelihan 8 Katalin Štěrbová 27 Emílie Vyhnálková 27 Catheline Vilain 39, 40 Julie Soblet 39, 40 Guillaume Smits 40, 39 Samuel Yang Jasper van der Smagt 30 Peter van Hasselt 30 Marjan van Kempen 30 Sarah Weckhuysen 41 Ingo Helbig 22 Laurent Villard 42, 10 Delphine Héron 43 Bobby Koeleman 30 Rikke Møller 44 Gaetan Lesca 36, 11, 12 Katherine Helbig 22 Rima Nabbout 4, 7 Nienke Verbeek 30 Christel Depienne 1
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Cyril Mignot, Aoife Mcmahon, Claire Bar, Philippe Campeau, David Davidson, et al.. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩. ⟨hal-01919142⟩

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