Analysis shows distinct repeat length variability in benign adult familial myoclonic epilepsy, suggesting inheritance patterns affect phenotypes.
Our study demonstrates distinct patterns of repeat length variability and inheritance across the families analyzed. These findings suggest that the genomic context of pentanucleotide expansions may influence repeat behavior and could contribute to phenotypic variability in BAFME.
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Rakwongkhachon et al. (2026) studied this question.
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