Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy-Reference-Cited by-同舟云学术

Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy

Published:2016-03-17 Issue:8 Volume:53 Page:511-522
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

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,Depienne Christel,

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference39 articles.

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2. A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II;Chen;Neuron,1998

3. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation;Krapivinsky;Neuron,2004

4. Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses;Clement;Cell,2012

5. SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor;Komiyama;J Neurosci,2002

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