IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.

ABSTRACT:

Background

IFIH1 variants have been reported to be associated with immune-related disorders with/without seizures. It is unknown whether IFIH1 variants are associated with common epilepsy without acquired causes and the mechanism underlying phenotypic variation remains elusive.

Methods

Trio-based whole-exome sequencing was performed on patients with febrile seizures or epilepsy with antecedent febrile seizures. Previously reported variants were systematically reviewed to investigate genotype-phenotype associations.

Results

Two de novo heterozygous and three biallelic missense variants were identified in five patients with generalised epilepsy with antecedent febrile seizures. The variants were predicted to be damaging by in silico tools and were associat

SUBMITTER: Song W 

PROVIDER: S-EPMC11420756 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature