| http://purl.uniprot.org/citations/34445580 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34445580 | http://www.w3.org/2000/01/rdf-schema#comment | "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. Herein, we investigated whether mice harboring either a heterozygous null Cilk1 (Cilk1+/-) mutation or a heterozygous loss-of-function Cilk1 mutation (Cilk1R272Q/+) have epilepsy. We first evaluated the spontaneous seizure phenotype of Cilk1+/- and Cilk1R272Q/+ mice relative to wildtype littermates. We observed no electrographic differences among the three mouse genotypes during prolonged recordings. We also evaluated electrographic and behavioral responses of mice recovering from isoflurane anesthesia, an approach recently used to measure seizure-like activity. Again, we observed no electrographic or behavioral differences in control versus Cilk1+/- and Cilk1R272Q/+ mice upon isoflurane recovery. These results indicate that mice bearing a non-functional copy of Cilk1 fail to produce electrographic patterns resembling those of JME patients with a variant CILK1 copy. Our findings argue against CILK1 haploinsufficiency being the mechanism that links CILK1 variants to JME."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms22168875"xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/author | "Fu Z."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/author | "Mason A.J."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/author | "Beenhakker M.P."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/author | "Wang E.J."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/author | "Salvati K.A."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/author | "Gailey C.D."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/pages | "8875"xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/title | "Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK."xsd:string |
| http://purl.uniprot.org/citations/34445580 | http://purl.uniprot.org/core/volume | "22"xsd:string |
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