Article

Negative Segregation of a Rare KIF1A Variant in Familial Hyperekplexia Illustrates Pitfalls in Exome Interpretation

2026-07-14

Abstract excerpt

<title>Abstract</title> <p> <bold>Objective</bold> To describe a familial exaggerated startle syndrome in which exome sequencing identified a rare candidate variant in <italic>KIF1A</italic> that was subsequently excluded by segregation analysis. <bold>Methods</bold> Clinical, electrophysiologic, and genetic investigations were performed in a family with autosomal dominant exaggerated startle responses. Who...

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Literature Corpus work: 087b3eda-3637-5ddb-9290-009538c56403
DOI: 10.21203/rs.3.rs-10103916/v1

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