Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder

BACKGROUND: There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca(2+)-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies...

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Detalles Bibliográficos
Autores principales: Hofer, Nadja T., Tuluc, Petronel, Ortner, Nadine J., Nikonishyna, Yuliia V., Fernándes-Quintero, Monica L., Liedl, Klaus R., Flucher, Bernhard E., Cox, Helen, Striessnig, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950833/
https://www.ncbi.nlm.nih.gov/pubmed/31921405
http://dx.doi.org/10.1186/s13229-019-0310-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950833/
https://www.ncbi.nlm.nih.gov/pubmed/31921405
http://dx.doi.org/10.1186/s13229-019-0310-4

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