Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Weckhuysen, Sarah; Myers, Candace T; Mefford, Heather C; Hörtnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R; Héron, Delphine; Kluger, Gerhard

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Title		Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Authors		Mignot, Cyril von Stülpnagel, Celina Nava, Caroline Ville, Dorothée Sanlaville, Damien Lesca, Gaetan Rastetter, Agnès Gachet, Benoit Marie, Yannick Korenke, G Christoph Borggraefe, Ingo Hoffmann-Zacharska, Dorota Szczepanik, Elżbieta Rudzka-Dybała, Mariola Yiş, Uluç Çağlayan, Hande Isapof, Arnaud Marey, Isabelle Panagiotakaki, Eleni Korff, Christian Rossier, Eva Riess, Angelika Beck-Woedl, Stefanie Rauch, Anita Zweier, Christiane Hoyer, Juliane Reis, André Mironov, Mikhail Bobylova, Maria Mukhin, Konstantin Hernandez-Hernandez, Laura Maher, Bridget Sisodiya, Sanjay Kuhn, Marius Glaeser, Dieter Weckhuysen, Sarah Myers, Candace T Mefford, Heather C Hörtnagel, Konstanze Biskup, Saskia Lemke, Johannes R Héron, Delphine Kluger, Gerhard show all authors [1 - 43]
Published in		Journal of Medical Genetics. 2016, vol. 53, no. 8, p. 511-22
Abstract		We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations.
Identifiers		DOI: 10.1136/jmedgenet-2015-103451 PMID: 26989088
Full text		Article (Published version) (317 Kb) - Limited access to UNIGE Article (Published version) (2.1 MB) - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine clinique / Département de pédiatrie
Citation (ISO format)		MIGNOT, Cyril et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: Journal of Medical Genetics, 2016, vol. 53, n° 8, p. 511-22. https://archive-ouverte.unige.ch/unige:96875