Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp

Abstract The CACNA1H gene encodes the α1 subunit of the low voltage-activated Cav3.2 T-type calcium channel, an important regulator of neuronal excitability. Alternative mRNA splicing can generate multiple channel variants with distinct biophysical properties and expression patterns. Two major splic...

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Bibliographic Details
Main Authors: Ivana A. Souza, Maria A. Gandini, Gerald W. Zamponi
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Molecular Brain
Subjects:
Online Access:https://doi.org/10.1186/s13041-021-00861-z