The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations

Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia episodic ataxia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function. Recently, an important...

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Detalles Bibliográficos
Autores principales: Michetti, Caterina, Castroflorio, Enrico, Marchionni, Ivan, Forte, Nicola, Sterlini, Bruno, Binda, Francesca, Fruscione, Floriana, Baldelli, Pietro, Valtorta, Flavia, Zara, Federico, Corradi, Anna, Benfenati, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321265/
https://www.ncbi.nlm.nih.gov/pubmed/28007585
http://dx.doi.org/10.1016/j.nbd.2016.12.018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321265/
https://www.ncbi.nlm.nih.gov/pubmed/28007585
http://dx.doi.org/10.1016/j.nbd.2016.12.018

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