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A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels

A novel missense mutation in the CACNA1A gene that encodes the pore forming α(1) subunit of the Ca(V)2.1 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 region of...

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Pubblicato in:Mol Brain
Autori principali: Gambeta, Eder, Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Zamponi, Gerald W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789175/
https://ncbi.nlm.nih.gov/pubmed/33413531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-020-00725-y
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