Article
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
PLoS genetics - 1 Jul 2017
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
Abstract excerpt
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 variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function. Exome...
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