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 mult

SUBMITTER: Li J 

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

REPOSITORIES: biostudies-literature