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New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

CACNA1D encodes the pore-forming α(1)-subunit of Ca(v)1.3, an L-type voltage-gated Ca(2+)-channel. Despite the recent discovery of two de novo missense gain-of-function mutations in Ca(v)1.3 in two individuals with autism spectrum disorder (ASD) and intellectual disability CACNA1D has not been consi...

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Detalles Bibliográficos
Autores principales:	Pinggera, Alexandra, Mackenroth, Luisa, Rump, Andreas, Schallner, Jens, Beleggia, Filippo, Wollnik, Bernd, Striessnig, Jörg
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886262/ https://www.ncbi.nlm.nih.gov/pubmed/28472301 http://dx.doi.org/10.1093/hmg/ddx175

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