Article

Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.

2024-10-28

Abstract excerpt

<title>Abstract</title> <p><bold>BACKGROUND</bold> Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration. Gain-of-function (GOF) variants in <italic>FLNA</italic> are associated with oto-palato-digital spectrum disorders (OPDSD). Loss-of-function (LOF) variants give rise to a wide variety of symptoms with periventricular nodular heterotopia (PVNH) and epilepsy as th...

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Literature Corpus work: 11374c68-0f63-5af5-bceb-db654ba865a6
DOI: 10.21203/rs.3.rs-4546691/v1

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