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Article

Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.

International journal of molecular sciences - 18 Aug 2021

Salvati Kathryn A, Mason Ashley J, Gailey Casey D, Wang Eric J, Fu Zheng, Beenhakker Mark P

Abstract excerpt

CILK1 (ciliogenesis associated kinase 1)/ICK (intestinal cell kinase) is a highly conserved protein kinase that regulates primary cilia structure and function. CILK1 mutations cause a wide spectrum of human diseases collectively called ciliopathies. While several CILK1 heterozygous variants have been recently linked to juvenile myoclonic epilepsy (JME), it remains unclear whether these mutations cause seizures....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34445580
DOI: 10.3390/ijms22168875
PMCID: PMC8396347

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