{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(1)"],"submitter":["Li J"],"pubmed_abstract":["CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2-12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was gen"],"journal":["Scientific reports"],"pagination":["17909"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6884442"],"repository":["biostudies-literature"],"pubmed_title":["Germline de novo variants in CSNK2B in Chinese patients with epilepsy."],"pmcid":["PMC6884442"],"pubmed_authors":["Li J","Cai S","Yu S","Hu W","Wang J","Jiang Y","Liu Y","Huang S","Yang Z","Xie H","Gao K","Zha J","Wang Y","Yan H","Wu Y"],"additional_accession":[]},"is_claimable":false,"name":"Germline de novo variants in CSNK2B in Chinese patients with epilepsy.","description":"CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2-12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was gen","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Nov","modification":"2026-06-12T05:32:57.373Z","creation":"2025-05-29T21:37:25.755Z"},"accession":"S-EPMC6884442","cross_references":{"pubmed":["31784560"],"doi":["10.1038/s41598-019-53484-9"]}}