ArticleCNS neuroscience & therapeutics2022
CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
Article in CNS neuroscience & therapeutics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- The expanding roles of adhesion GPCRs in neural circuit assembly.Molecules and cells · 2026Review
- Immunological mechanisms and prevention strategies for febrile seizures in children.Frontiers in immunology · 2026Review
- Synaptic Cell Adhesion: A Functional Perspective.Advances in neurobiology · 2026Review
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- Article
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.NPJ genomic medicine · 2024Article
- Variants inJournal of medical genetics · 2023Article
- Article
- Article
- Efficient strategies based on behavioral and electrophysiological methods for epilepsy-related gene screening in theFrontiers in molecular neuroscience · 2023Article
- CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.CNS neuroscience & therapeutics · 2022Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+).
methodsThe 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.
resultsFive 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.
conclusionsCELSR3 variants are potentially associated with FS/EFS+.
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