The female epilepsy protein PCDH19 is a new GABA(A)R-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons

The PCDH19 gene (Xp22.1) encodes the cell-adhesion protein protocadherin-19 (PCDH19) and is responsible for a neurodevelopmental pathology characterized by female-limited epilepsy, cognitive impairment and autistic features, the pathogenic mechanisms of which remain to be elucidated. Here, we identi...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Bassani, Silvia, Cwetsch, Andrzej W, Gerosa, Laura, Serratto, Giulia M, Folci, Alessandra, Hall, Ignacio F, Mazzanti, Michele, Cancedda, Laura, Passafaro, Maria
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886308/
https://ncbi.nlm.nih.gov/pubmed/29360992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy019
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