Article

A novel MAPK1 variant in a family with complex psychiatric and neurodegenerative clinical phenotype

2025-01-24

Abstract excerpt

<title>Abstract</title> <p>Neurodegenerative disorders leading to dementia often have multifactorial etiologies, but monogenic causes are occasionally identified. We report a three-generation family with two individuals (mother and son) affected by a non-syndromic psychiatric disorder featuring early-onset cognitive decline. Exome sequencing revealed a novel MAPK1 variant (Y128C), de novo in mother, inherited by...

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Literature Corpus work: 71ad8b53-bf06-5801-bfd5-f94216d7be26
DOI: 10.21203/rs.3.rs-5881666/v1

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