| http://purl.uniprot.org/citations/33197557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33197557 | http://www.w3.org/2000/01/rdf-schema#comment | "CDKL5 deficiency disorder (CDD) is an infantile, epileptic encephalopathy presenting with early-onset seizures, intellectual disability, motor impairment, and autistic features. The disorder has been linked to mutations in the X-linked CDKL5, and mouse models of the disease recapitulate several aspects of CDD symptomology, including learning and memory impairments, motor deficits, and autistic-like features. Although early-onset epilepsy is one of the hallmark features of CDD, evidence of spontaneous seizure activity has only recently been described in Cdkl5-deficient heterozygous female mice, but the etiology, prevalence, and sex-specificity of this phenotype remain unknown. Here, we report the first observation of disturbance-associated seizure-like events in heterozygous female mice across two independent mouse models of CDD: Cdkl5 knockout mice and CDKL5 R59X knock-in mice. We find that both the prevalence and severity of this phenotype increase with aging, with a median onset around 28 weeks of age. Similar seizure-like events are not observed in hemizygous knockout male or homozygous knockout female littermates, suggesting that X-linked cellular mosaicism is a driving factor underlying these seizure-like events. Together, these findings not only contribute to our understanding of the effects of CDKL5 loss on seizure susceptibility, but also document a novel, pre-clinical phenotype for future therapeutic investigation."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2020.105176"xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Zhou Z."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Tang S."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Cui Y."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Edmondson A.C."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Marsh E.D."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Coulter D.A."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Sarmiento N."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Terzic B."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/author | "Zaitseva D."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/name | "Neurobiol Dis"xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/pages | "105176"xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/title | "X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder."xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://purl.uniprot.org/core/volume | "148"xsd:string |
| http://purl.uniprot.org/citations/33197557 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33197557 |
| http://purl.uniprot.org/citations/33197557 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33197557 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JGW6-mappedCitation-33197557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33197557 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JF79-mappedCitation-33197557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33197557 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JFE2-mappedCitation-33197557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33197557 |
| http://purl.uniprot.org/uniprot/#_Q3UTQ8-mappedCitation-33197557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33197557 |
| http://purl.uniprot.org/uniprot/A0A0G2JFE2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/33197557 |
| http://purl.uniprot.org/uniprot/Q3UTQ8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/33197557 |