Articles with "pkd1 mutations" as a keyword



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

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Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.861159

Abstract: 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… read more here.

Keywords: antecedent febrile; pkd1; seizures epilepsy; epilepsy antecedent ... See more keywords