Article

Genotypic and Phenotypic Spectrum of PRRT2-Related Variations: Clinical Analysis and Treatment Response in Fourteen Unrelated Chinese Patients

2025-12-15

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> PRRT2 gene mutations are one of the most common genetic factors leading to neurodevelopmental disorders, such as autism spectrum disorder, intellectual disability, and epilepsy. This gene encodes a proline-rich transmembrane protein 2, which plays a crucial role in neuronal development and synaptic transmission. Mutations in this gene can result in a variety...

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Literature Corpus work: da73cab4-969d-56f3-a425-b0635bc6e6b4
DOI: 10.21203/rs.3.rs-7941362/v1

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