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Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

2010; Wiley; Volume: 152A; Issue: 8 Linguagem: Inglês

10.1002/ajmg.a.33037

1552-4833

Julien Masliah‐Plachon, Stéphane Auvin, Juliette Nectoux, Yann Fichou, Jamel Chelly, Thierry Bienvenu,

Chromosomal and Genetic Variations

American Journal of Medical Genetics Part AVolume 152A, Issue 8 p. 2110-2111 Research Letter Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males† Julien Masliah-Plachon, Julien Masliah-Plachon Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, FranceSearch for more papers by this authorStéphane Auvin, Stéphane Auvin Service de Neurologie Pédiatrique et des Maladies Métaboliques, AP-HP, Hôpital Robert Debré, Paris, FranceSearch for more papers by this authorJuliette Nectoux, Juliette Nectoux Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceSearch for more papers by this authorYann Fichou, Yann Fichou Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceSearch for more papers by this authorJamel Chelly, Jamel Chelly Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceSearch for more papers by this authorThierry Bienvenu, Corresponding Author Thierry Bienvenu thierry.bienvenu@inserm.fr Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceLaboratoire de Génétique et de Physiopathologie des Maladies Neurodéveloppementales, Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, 24 rue du Faubourg Saint Jacques. 75014 Paris, France.Search for more papers by this author Julien Masliah-Plachon, Julien Masliah-Plachon Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, FranceSearch for more papers by this authorStéphane Auvin, Stéphane Auvin Service de Neurologie Pédiatrique et des Maladies Métaboliques, AP-HP, Hôpital Robert Debré, Paris, FranceSearch for more papers by this authorJuliette Nectoux, Juliette Nectoux Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceSearch for more papers by this authorYann Fichou, Yann Fichou Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceSearch for more papers by this authorJamel Chelly, Jamel Chelly Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceSearch for more papers by this authorThierry Bienvenu, Corresponding Author Thierry Bienvenu thierry.bienvenu@inserm.fr Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, Paris, FranceLaboratoire de Génétique et de Physiopathologie des Maladies Neurodéveloppementales, Université Paris Descartes, CNRS (UMR 8104), Inserm U567, Institut Cochin, 24 rue du Faubourg Saint Jacques. 75014 Paris, France.Search for more papers by this author First published: 20 July 2010 https://doi.org/10.1002/ajmg.a.33037Citations: 28 † How to Cite this Article: Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T. 2010. Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet Part A 152A:2112–2114. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume152A, Issue8August 2010Pages 2110-2111 RelatedInformation