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CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels

BACKGROUND: Cav1.3 voltage-gated L-type calcium channels (LTCCs) are part of postsynaptic neuronal signaling networks. They play a key role in brain function, including fear memory and emotional and drug-taking behaviors. A whole-exome sequencing study identified a de novo mutation, p.A749G, in Cav1...

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Detalles Bibliográficos
Autores principales: Pinggera, Alexandra, Lieb, Andreas, Benedetti, Bruno, Lampert, Michaela, Monteleone, Stefania, Liedl, Klaus R., Tuluc, Petronel, Striessnig, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401440/
https://www.ncbi.nlm.nih.gov/pubmed/25620733
http://dx.doi.org/10.1016/j.biopsych.2014.11.020