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Article

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

CNS neuroscience & therapeutics - 1 Mar 2022

Li Jia, Lin Si-Mei, Qiao Jing-Da, Liu Xiao-Rong, Wang Jie, Jiang Mi, Zhang Jing, Zhong Min, Chen Xu-Qin, Zhu Jing, He Na, Su Tao, Shi Yi-Wu, Yi Yong-Hong, Liao Wei-Ping

Abstract excerpt

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...

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Identifiers

PMID: 34951123
DOI: 10.1111/cns.13781
PMCID: PMC8841303

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