Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Chorea-Acanthocytosis (ChAc), a rare autosomal recessive inherited neurological disorder, originated from variants in Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The main symptoms of ChAc contain hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated ser...

Descripción completa

Detalles Bibliográficos
Autores principales: Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7928333/
https://www.ncbi.nlm.nih.gov/pubmed/33679298
http://dx.doi.org/10.3389/fnins.2021.604715

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7928333/
https://www.ncbi.nlm.nih.gov/pubmed/33679298
http://dx.doi.org/10.3389/fnins.2021.604715

Ejemplares similares