Article

A novel gain of function variant in NUAK2 causes oculomotor apraxia in a three-generation family

2026-07-09

Abstract excerpt

<title>Abstract</title> <p> Oculomotor apraxia (OMA) is a condition involving impaired voluntary initiation of rapid horizontal eye movements with a broad aetiology. Congenital OMA is associated with structural brain differences, cerebellar ataxia, and neurodevelopmental differences. Although pathogenic variants in numerous genes have been identified, many cases lack a confirmed genetic cause. This study describ...

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Literature Corpus work: e9c357d1-1801-5ec0-b5de-df71e7f326d2
DOI: 10.21203/rs.3.rs-10210625/v1

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