Truncating mutation in
            <i>CSNK2B</i>
            and myoclonic epilepsy

Sakaguchi, Yoshihisa; Uehara, Tomoko; Suzuki, Hisato; Kosaki, Kenjiro; Tamura, Toshiki

doi:10.1002/humu.23307

Cited by 18 publications

(30 citation statements)

References 4 publications

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“…Seizures were clustered in 66.7% (6/9) patients (patients 2, 3, 4, 5, 6, and 9). We did not find any dysmorphic features in our patients, which was previously reported in two patients 21 . The brain MRIs of patients 1, 4, 5, 6, 7, 8 and 9 were normal.…”

Section: Resultssupporting

confidence: 65%

“…The variants in black fonts are from this study and the symbol * indicates that there are two cases with the variant. The variants highlighted in red are from recently reported patients with ID/DD and epilepsy 20,21 , the variant highlighted in gold is from recently reported patient with ID 20 , and the variants highlighted in green are from recently reported patient with profound ID and refractory epilepsy 22 .…”

Section: Resultsmentioning

confidence: 99%

“…The patient with myoclonic seizures (c.175 + 2 A > G) had refractory epilepsy, which occurred at the age of 18 months, and no remarkable improvement was found after LEV and VPA treatment. Then, a study reported a truncating mutation in CSNK2B (c.108dup) that causes myoclonic epilepsy and ID 21 . Antiepileptic treatment with VPA and LEV cured both epileptic myoclonus and complex partial seizures at the age of 15 months.…”

Section: Discussionmentioning

confidence: 99%

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Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Gao

Cai

et al. 2019

Sci Rep

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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.

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Section: Resultssupporting

confidence: 65%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Gao

Cai

et al. 2019

Sci Rep

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“… 247 All patients showed intellectual disabilities and developmental delays. Consistently, CSNK2B splice site mutations and truncating mutations were reported in patients with intellectual disability by other groups, 248 , 249 who also suggested a possible correlation of CK2β variants with epilepsy (see below, POBINDS).…”

Section: Ck2 In Human Diseasessupporting

confidence: 69%

Protein kinase CK2: a potential therapeutic target for diverse human diseases

Borgo

D’Amore

Sarno

et al. 2021

Sig Transduct Target Ther

217

180

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CK2 is a constitutively active Ser/Thr protein kinase, which phosphorylates hundreds of substrates, controls several signaling pathways, and is implicated in a plethora of human diseases. Its best documented role is in cancer, where it regulates practically all malignant hallmarks. Other well-known functions of CK2 are in human infections; in particular, several viruses exploit host cell CK2 for their life cycle. Very recently, also SARS-CoV-2, the virus responsible for the COVID-19 pandemic, has been found to enhance CK2 activity and to induce the phosphorylation of several CK2 substrates (either viral and host proteins). CK2 is also considered an emerging target for neurological diseases, inflammation and autoimmune disorders, diverse ophthalmic pathologies, diabetes, and obesity. In addition, CK2 activity has been associated with cardiovascular diseases, as cardiac ischemia–reperfusion injury, atherosclerosis, and cardiac hypertrophy. The hypothesis of considering CK2 inhibition for cystic fibrosis therapies has been also entertained for many years. Moreover, psychiatric disorders and syndromes due to CK2 mutations have been recently identified. On these bases, CK2 is emerging as an increasingly attractive target in various fields of human medicine, with the advantage that several very specific and effective inhibitors are already available. Here, we review the literature on CK2 implication in different human pathologies and evaluate its potential as a pharmacological target in the light of the most recent findings.

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“…Тем не менее у людей, больных Т-клеточным лейкозом взрослых (Adult T cell leukemia/lymphoma) и инфицированных вирусом HTLV-I, была обнаружена повышенная частота соматических мутаций в гене CSNK2B (Ka taoka et al, 2015). Интересно, что мутации в этом ге не у человека ассоциированы с развитием шизофрении Niu et al, 2019), судорожных припадков (Nakashima et al, 2019) и эпилепсии (Poirier et al, 2017;Sakaguchi et al, 2017). В связи с этим представляется перспективным исследовать изменение поведения животных после инфицирования ВЛКРС.…”

Section: генетика и селекция животных / Animal Genetics and Breedingunclassified

Single nucleotide polymorphism rs110861313 in the intergenic region of chromosome 23 is associated with the development of leukosis in the Russian Black Pied cattle

et al. 2020

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In recent years, using a genome-wide association study (GWAS), a number of single nucleotide polymorphisms (SNPs) have been suggested to be associated with susceptibility to leukemia in cattle. However, all studies have been done with purebred Holstein cows and their hybrids. In this regard, it is important to confirm the functional role of polymorphisms previously identified in a GWAS study in Russian cattle breeds. The aim of this study was to verify the association between rs110861313 in the intergenic region of bovine chromosome 23 and leukemia in the Russian Black Pied cattle. Based on the levels of bovine leukemia virus (BLV)-specific antibodies detected in serum using serodiagnostic techniques, animals were divided into three groups: healthy animals (n = 115), asymptomatic virus carriers (n = 145) and animals with leukemia (n = 107). Genotyping of rs110861313 was carried out using polymerase chain reaction followed by analysis of restriction fragment length polymorphisms. A significant decrease in the frequency of the A/A genotype (11.2 %) was revealed in animals with persistent lymphocytosis compared to virus carriers (27.6 %) (p < 0.002). At the same time, the frequency of animals with the C/C genotype in animals with persistent lymphocytosis (41.1 %) was significantly higher than that of virus carriers (21.4 %) (p < 0.001). In this case, asymptomatic virus carriers can be considered a more suitable control than healthy animals that have not been in contact with the virus. According to bioinformatics analysis, resistance to BLV can be due to the presence of the transcription factor FOXM1 binding site in the region of rs110861313. FOXM1 is expressed in immune cells and can potentially affect the expression of the neighboring genes (LY6G5B, GPANK1, ABHD16A, LY6G6F, LY6G6E, CSNK2B, ApoM). Thus, we found that SNP rs110861313 in the intergenic region of bovine chromosome 23 is associated with the development of leukemia following BLV infection in the Russian Black Pied cattle.

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Truncating mutation in CSNK2B and myoclonic epilepsy

Cited by 18 publications

References 4 publications

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Protein kinase CK2: a potential therapeutic target for diverse human diseases

Single nucleotide polymorphism rs110861313 in the intergenic region of chromosome 23 is associated with the development of leukosis in the Russian Black Pied cattle

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