Familial Transmission and Phenotypic Heterogeneity in Germline GATOR1-Related Epilepsy: A Systematic Review and Meta-Analysis

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14 Nov 2026 0 comments

Incomplete penetrance and variable expressivity complicate interpretation of germline GATOR1 variants and individual-level phenotype prediction. We conducted a family-based systematic review and meta-analysis, reconstructing individual-level data from published pedigrees and reassessing variants using GATOR1-specific classification criteria. Sixty-three studies were included; 59 contributed 734 individuals heterozygous for germline pathogenic or likely pathogenic (P/LP) variants from 227...