Mostrar el registro sencillo del ítem
dc.contributor.author
Mustafá, Emilio Román
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Gambeta, Eder
dc.contributor.author
Stringer, Robin N.
dc.contributor.author
Souza, Ivana A.
dc.contributor.author
Zamponi, Gerald W.
dc.contributor.author
Weiss, Norbert
dc.date.available
2023-08-29T14:11:38Z
dc.date.issued
2022-11
dc.identifier.citation
Mustafá, Emilio Román; Gambeta, Eder; Stringer, Robin N.; Souza, Ivana A.; Zamponi, Gerald W.; et al.; Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia; BioMed Central; Molecular Brain; 15; 1; 11-2022; 1-14
dc.identifier.issn
1756-6606
dc.identifier.uri
http://hdl.handle.net/11336/209709
dc.description.abstract
Trigeminal neuralgia (TN) is a rare form of chronic neuropathic pain characterized by spontaneous or elicited paroxysms of electric shock-like or stabbing pain in a region of the face. While most cases occur in a sporadic manner and are accompanied by intracranial vascular compression of the trigeminal nerve root, alteration of ion channels has emerged as a potential exacerbating factor. Recently, whole exome sequencing analysis of familial TN patients identified 19 rare variants in the gene CACNA1H encoding for Cav3.2T-type calcium channels. An initial analysis of 4 of these variants pointed to a pathogenic role. In this study, we assessed the electrophysiological properties of 13 additional TN-associated Cav3.2 variants expressed in tsA-201 cells. Our data indicate that 6 out of the 13 variants analyzed display alteration of their gating properties as evidenced by a hyperpolarizing shift of their voltage dependence of activation and/or inactivation resulting in an enhanced window current supported by Cav3.2 channels. An additional variant enhanced the recovery from inactivation. Simulation of neuronal electrical membrane potential using a computational model of reticular thalamic neuron suggests that TN-associated Cav3.2 variants could enhance neuronal excitability. Altogether, the present study adds to the notion that ion channel polymorphisms could contribute to the etiology of some cases of TN and further support a role for Cav3.2 channels.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
BioMed Central
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
CAV3.2 CHANNEL
dc.subject
CACNA1H
dc.subject
CALCIUM CHANNEL
dc.subject
CHANNELOPATHY
dc.subject
ION CHANNEL
dc.subject
TRIGEMINAL NEURALGIA
dc.subject.classification
Neurociencias
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
Medicina Básica
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.title
Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-07-04T13:36:39Z
dc.journal.volume
15
dc.journal.number
1
dc.journal.pagination
1-14
dc.journal.pais
Reino Unido
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.description.fil
Fil: Mustafá, Emilio Román. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
dc.description.fil
Fil: Gambeta, Eder. No especifíca;
dc.description.fil
Fil: Stringer, Robin N.. Czech Academy of Sciences; República Checa
dc.description.fil
Fil: Souza, Ivana A.. University of Calgary; Canadá
dc.description.fil
Fil: Zamponi, Gerald W.. University of Calgary; Canadá
dc.description.fil
Fil: Weiss, Norbert. Karlova Univerzita; República Checa
dc.journal.title
Molecular Brain
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://molecularbrain.biomedcentral.com/articles/10.1186/s13041-022-00978-9
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1186/s13041-022-00978-9
Archivos asociados