Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Aberrant activation or inhibition of potassium (K(+)) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K(+) channel subfamily K member 4 (KCNK4), al...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6174320/
https://ncbi.nlm.nih.gov/pubmed/30290154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.09.001
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