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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Journal of Medical Genetics 53.8 (2016): S. 511-522.

Keyword: -

Event: Veröffentlichung

(where): Erlangen

(who): Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)

(when): 2016

Creator: Mignot, Cyril
Stülpnagel, Celina von
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
Depienne, Christel

URN: urn:nbn:de:bvb:29-opus4-96860

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:42 PM CET

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Associated

Mignot, Cyril
Stülpnagel, Celina von
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
Depienne, Christel
Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)

Time of origin

2016

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

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Other Objects (12)

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

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A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

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Meeting emotional needs in intellectual disability : the developmental approach

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