Recessive pkd1 mutations are associated with febrile seizures and epilepsy with antecedent febrile seizures and the genotype-phenotype correlation

HIGHLIGHTS

• who: Na He from the Childrenu2019s Medical Center of Medical UniversityPeking University First, China have published the Article: Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation, in the Journal: (JOURNAL)
• what: In the present study, compound heterozygous PKD1 mutations were identified in eight unrelated cases with FS and epilepsy with antecedent FS.

SUMMARY

The encoded protein polycystin-1 (PC1) forms a complex with polycystin-2 (PC2), which regulates calcium permeable cation_channels and intracellular calcium homeostasis (Semmo et_al, 2014; Kim et_al . . .

 



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