Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation

OBJECTIVE: The PKD1 encodes polycystin-1, a large transmembrane protein that plays important roles in cell proliferation, apoptosis, and cation transport. Previous studies have identified PKD1 mutations in autosomal dominant polycystic kidney disease (ADPKD). However, the expression of PKD1 in the b...

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Detalles Bibliográficos
Autores principales: Wang, Jing-Yang, Wang, Jie, Lu, Xin-Guo, Song, Wang, Luo, Sheng, Zou, Dong-Fang, Hua, Li-Dong, Peng, Qian, Tian, Yang, Gao, Liang-Di, Liao, Wei-Ping, He, Na
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128595/
https://www.ncbi.nlm.nih.gov/pubmed/35620448
http://dx.doi.org/10.3389/fnmol.2022.861159

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