Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (KCNJ10) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity. To define the role of Kir4.1 variants in the disorder, we sequenced KCNJ10 in a sample of affected individuals, and performed genotype-phenotype co...

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Detalles Bibliográficos
Autores principales: Sicca, Federico, Ambrosini, Elena, Marchese, Maria, Sforna, Luigi, Servettini, Ilenio, Valvo, Giulia, Brignone, Maria Stefania, Lanciotti, Angela, Moro, Francesca, Grottesi, Alessandro, Catacuzzeno, Luigi, Baldini, Sara, Hasan, Sonia, D’Adamo, Maria Cristina, Franciolini, Fabio, Molinari, Paola, Santorelli, Filippo M., Pessia, Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039625/
https://www.ncbi.nlm.nih.gov/pubmed/27677466
http://dx.doi.org/10.1038/srep34325

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039625/
https://www.ncbi.nlm.nih.gov/pubmed/27677466
http://dx.doi.org/10.1038/srep34325

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