Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

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 Ca2+ 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 varian...

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Bibliographic Details
Main Authors: Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler, Members of the UDN
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-07-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5557584?pdf=render

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http://europepmc.org/articles/PMC5557584?pdf=render

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