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

ObjectiveThe 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 bra...

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Main Authors: Jing-Yang Wang, Jie Wang, Xin-Guo Lu, Wang Song, Sheng Luo, Dong-Fang Zou, Li-Dong Hua, Qian Peng, Yang Tian, Liang-Di Gao, Wei-Ping Liao, Na He
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-05-01
Colecção:Frontiers in Molecular Neuroscience
Assuntos:
PKD1 gene
epilepsy with antecedent febrile seizures
genotype-phenotype association
monoallelic mutation
compound heterozygous mutations
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnmol.2022.861159/full
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