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http://purl.uniprot.org/citations/34109749http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34109749http://www.w3.org/2000/01/rdf-schema#comment"

Aims

CHD4 gene, encoding chromodomain helicase DNA-binding protein 4, is a vital gene for fetal development. In this study, we aimed to explore the association between CHD4 variants and idiopathic epilepsy.

Methods

Trios-based whole-exome sequencing was performed in a cohort of 482 patients with childhood idiopathic epilepsy. The Clinical Validity Framework of ClinGen and an evaluating method from five clinical-genetic aspects were used to determine the association between CHD4 variants and epilepsy.

Results

Four novel heterozygous missense mutations in CHD4, including two de novo mutations (c.1597A>G/p.K533E and c.4936G>A/p.E1646K) and two inherited mutations with co-segregation (c.856C>G/p.P286A and c.4977C>G/p.D1659E), were identified in four unrelated families with eight individuals affected. Seven affected individuals had sinus arrhythmia. From the molecular sub-regional point of view, the missense mutations located in the central regions from SNF2-like region to DUF1087 domain were associated with multisystem developmental disorders, while idiopathic epilepsy-related mutations were outside this region. Strong evidence from ClinGen Clinical Validity Framework and evidences from four of the five clinical-genetic aspects suggested an association between CHD4 variants and epilepsy.

Conclusions

CHD4 was potentially a candidate pathogenic gene of childhood idiopathic epilepsy with arrhythmia. The molecular sub-regional effect of CHD4 mutations helped explaining the mechanisms underlying phenotypic variations."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.org/dc/terms/identifier"doi:10.1111/cns.13692"xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Guo X."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"He N."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Xu M."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Wang J."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Yi Y.H."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Zhang W.J."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Wu Q.Y."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Huang S.P."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Su T."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Shi Y.W."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Ye T.T."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Liu X.R."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Deng W.W."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Liao W.P."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Li B.M."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Song X.W."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Zhuang M.Z."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/author"Xie L.S."xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/name"CNS Neurosci Ther"xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/pages"1146-1156"xsd:string
http://purl.uniprot.org/citations/34109749http://purl.uniprot.org/core/title"CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia."xsd:string
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