Dataset Information

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

ABSTRACT:

Aims

To identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+).

Methods

The trio-based whole-exome sequencing was performed in a cohort of 462 cases with FS/EFS+. Silico programs, sequence alignment, and protein modeling were used to predict the damaging of variants. Statistical testing was performed to analyze gene-based burden of variants.

Results

Five heterozygous missense variants in CELSR3 were detected in five cases (families) with eight individuals (five females, three males) affected. Two variants were de novo, and three were identified in families with more than one individual affected. All the variants were predicted to be damaging in silico tools. Protein modeling showed that the variants resulted in disappearance of multiple hydrogen bonds and one disulfide bond, which potentially caused functional impairments of protein. The frequency of CELSR3 variants identified in this study was significantly higher than that in controls. All affected individuals were diagnosed with FS/EFS+, including six patients with FS and two patients with EFS+. All cases presented favorable outcomes without neurodevelopmental disorders.

Conclusions

CELSR3 variants are potentially associated with FS/EFS+.

SUBMITTER: Li J

PROVIDER: S-EPMC8841303 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Publications

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Li Jia J Lin Si-Mei SM Qiao Jing-Da JD Liu Xiao-Rong XR Wang Jie J Jiang Mi M Zhang Jing J Zhong Min M Chen Xu-Qin XQ Zhu Jing J He Na N Su Tao T Shi Yi-Wu YW Yi Yong-Hong YH Liao Wei-Ping WP

CNS neuroscience & therapeutics 20211223 3

<h4>Aims</h4>To identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+).<h4>Methods</h4>The trio-based whole-exome sequencing was performed in a cohort of 462 cases with FS/EFS+. Silico programs, sequence alignment, and protein modeling were used to predict the damaging of variants. Statistical testing was performed to analyze gene-based burden of variants.<h4>Results</h4>Five heterozygous missense variants in CELSR3 were detected in five cases (families) with ...[more]

PMID: 34951123

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Dataset Information

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Aims

Methods

Results

Conclusions

Publications

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Similar Datasets

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