A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

Clustering of inhibitory γ-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key interactions between the receptors, a “scaffolding” protein known as gephyrin and the RhoGEF collybistin. We report the identification of a balanced chromosomal translocation in a fe...

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Autori principali: Kalscheuer, Vera M., Musante, Luciana, Fang, Cheng, Hoffmann, Kirsten, Fuchs, Celine, Carta, Eloisa, Deas, Emma, Venkateswarlu, Kanamarlapudi, Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Dalprà, Leda, Tzschach, Andreas, Selicorni, Angelo, Lüscher, Bernhard, Ropers, Hans-Hilger, Harvey, Kirsten, Harvey, Robert J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3621145/
https://ncbi.nlm.nih.gov/pubmed/18615734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20814
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