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Article

Clinical spectrum and treatment responses in.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 18 Apr 2026

Xiao Xiao, Chen Xiaoqi, Zheng Hao, Xiong Miao, Liu Yuhang, Jiang Li, Hu Yue

Abstract excerpt

OBJECTIVE: To compare the genotype-phenotype relationships betweenchildren with PRRT2 gene variants and 16p11.2 microdeletion syndrome. METHODS: A retrospective analysis was performed on clinical data from 68 patients with PRRT2 variants and 16 patients with 16p11.2 microdeletionsyndrome at the Children’s Hospital of Chongqing Medical Universitybetween February 2015 and August 2024. Genetic testing included...

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Identifiers

PMID: 41998443
DOI: 10.1007/s10072-026-09036-x

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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