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Article

Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients.

BMC medical genomics - 30 Apr 2026

Liu Fen, Huang Juhua, Xiao Qiong, Huang Shan, Lin Simei, Fang Danna, Li Jianwei, Luo Qingming

Abstract excerpt

BACKGROUND: 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 of clinical phenotypes. METHODS: We...

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Identifiers

PMID: 42063051
DOI: 10.1186/s12920-026-02379-6
PMCID: PMC13289419

Genes

PRRT2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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