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Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

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 generalized tonic-clonic seizure and clustered (6/9). Most patients had normal electroencephalogram (5/9) and brain magnetic resonance image (7/9) results. Most patients (7/9) had easy-to-control seizures. Levetiracetam was the most commonly used drug in seizure-free patients (5/7). The variants detected in five patients (5/9, 55.6%) were located in the zinc-binding domain. In summary, our research provided evidence that variants in CSNK2B are associated with epilepsy with or without ID/DD. CSNK2B-related epilepsy is relatively easy to be controlled. The zinc-binding domain appears to be the hotspot region for mutation.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Li J,Gao K,Cai S,Liu Y,Wang Y,Huang S,Zha J,Hu W,Yu S,Yang Z,Xie H,Yan H,Wang J,Wu Y,Jiang Y

doi

10.1038/s41598-019-53484-9

subject

Has Abstract

pub_date

2019-11-29 00:00:00

pages

17909

issue

1

issn

2045-2322

pii

10.1038/s41598-019-53484-9

journal_volume

9

pub_type

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