Kyiv Medical University

Strengthening the Genetic Evidence for the FLNA c.5776C>T (p.Pro1926Ser) Variant: Comments on Segregation, X-inactivation, and Digenic Considerations

Background: We read with interest the reported mother–daughter case series describing the novel heterozygous FLNA c.5776C>T (p.Pro1926Ser) variant associated with epilepsy and variable multisystem manifestations. Discussion: We highlight several considerations that may further st...