Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca(2+) channel, can cause diverse neurological phenotypes. Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with vari...

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Detalles Bibliográficos
Autores principales: Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557584/
https://www.ncbi.nlm.nih.gov/pubmed/28742085
http://dx.doi.org/10.1371/journal.pgen.1006905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557584/
https://www.ncbi.nlm.nih.gov/pubmed/28742085
http://dx.doi.org/10.1371/journal.pgen.1006905

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