Cargando…
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases
Paroxysmal kinesigenic dyskinesia is an episodic movement disorder caused by dominant mutations in the proline-rich transmembrane protein PRRT2, with onset in childhood and typically with improvement or resolution by middle age. Mutations in the same gene may also cause benign infantile seizures, wh...
Autores principales: | AJ, Fay, T, McMahon, C, Im, C, Bair-Marshall, KJ, Niesner, H, Li, A, Nelson, SM, Voglmaier, Y-H, Fu, LJ, Ptáček |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241743/ https://www.ncbi.nlm.nih.gov/pubmed/34101060 http://dx.doi.org/10.1007/s10048-021-00645-6 |
Ejemplares similares
-
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations
por: Michetti, Caterina, et al.
Publicado: (2017) -
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
por: Döring, Jan Henje, et al.
Publicado: (2020) -
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders
por: Zhao, Shao‐Yun, et al.
Publicado: (2019) -
Combination Therapies with PRRT
por: Yordanova, Anna, et al.
Publicado: (2021) -
PRRT: identikit of the perfect patient
por: Albertelli, M., et al.
Publicado: (2020)