A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels
Abstract A novel missense mutation in the CACNA1A gene that encodes the pore forming α1 subunit of the CaV2.1 voltage-gated calcium channel was identified in a patient with trigeminal neuralgia. This mutation leads to a substitution of proline 2455 by histidine (P2455H) in the distal C-terminus regi...
Main Authors: | Eder Gambeta, Maria A. Gandini, Ivana A. Souza, Laurent Ferron, Gerald W. Zamponi |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2021-01-01
|
Series: | Molecular Brain |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13041-020-00725-y |
Similar Items
-
Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia
by: Emilio R. Mustafá, et al.
Published: (2022-11-01) -
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function
by: Maria A. Gandini, et al.
Published: (2021-02-01) -
CaVβ-subunit dependence of forward and reverse trafficking of CaV1.2 calcium channels
by: Laurent Ferron, et al.
Published: (2022-05-01) -
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
by: Robin N. Stringer, et al.
Published: (2021-08-01) -
Synthesis and In Vivo Antiarrhythmic Activity Evaluation of Novel Scutellarein Analogues as Voltage-Gated Nav1.5 and Cav1.2 Channels Blockers
by: Wei Yang, et al.
Published: (2023-11-01)