Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

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Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABA(A) and glycine receptors (GABA(A)Rs and GlyRs), and is...

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Detalles Bibliográficos
Autores principales: Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693503/
https://www.ncbi.nlm.nih.gov/pubmed/26613940
http://dx.doi.org/10.15252/emmm.201505323
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