<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>9(1)</volume><submitter>Li J</submitter><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</pubmed_abstract><journal>Scientific reports</journal><pagination>17909</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC6884442</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</pubmed_title><pmcid>PMC6884442</pmcid><pubmed_authors>Li J</pubmed_authors><pubmed_authors>Cai S</pubmed_authors><pubmed_authors>Yu S</pubmed_authors><pubmed_authors>Hu W</pubmed_authors><pubmed_authors>Wang J</pubmed_authors><pubmed_authors>Jiang Y</pubmed_authors><pubmed_authors>Liu Y</pubmed_authors><pubmed_authors>Huang S</pubmed_authors><pubmed_authors>Yang Z</pubmed_authors><pubmed_authors>Xie H</pubmed_authors><pubmed_authors>Gao K</pubmed_authors><pubmed_authors>Zha J</pubmed_authors><pubmed_authors>Wang Y</pubmed_authors><pubmed_authors>Yan H</pubmed_authors><pubmed_authors>Wu Y</pubmed_authors></additional><is_claimable>false</is_claimable><name>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</name><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</description><dates><release>2019-01-01T00:00:00Z</release><publication>2019 Nov</publication><modification>2026-06-12T05:32:57.373Z</modification><creation>2025-05-29T21:37:25.755Z</creation></dates><accession>S-EPMC6884442</accession><cross_references><pubmed>31784560</pubmed><doi>10.1038/s41598-019-53484-9</doi></cross_references></HashMap>