Article

Neurodevelopmental Disorder Due to a Frameshift Mutation in the GRIN2A Gene: A Case Report and Literature Review

2024-12-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>The GRIN2A gene is known to harbor rare mutations that can lead to neurodevelopmental disorders with diverse phenotypic presentations. This report describes a previously unreported case of a rare condition that initially presented with ataxia, followed by speech impairments without seizures, and showed subsequent improvement following immunotherapy. <bold>Case p...

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Literature Corpus work: 6bac9c73-eeb1-51f5-9152-c7fa4379c2e8
DOI: 10.21203/rs.3.rs-5451405/v1

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