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The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.

Developmental medicine and child neurology - 1 Nov 2025

Tan Quanzhen, Cheng Miaomiao, Yang Ying, Wang Ting, Ouyang Shijia, Liu Changhao, Yang Xiaoling, Liu Wenwei, Wu Ye, Zhang Yuehua

Abstract excerpt

AIM: To explore the phenotypic spectrum and refine the genotype-phenotype correlation of YWHAG-related epilepsy. METHOD: This study used a retrospective cohort design to evaluate the clinical data of 15 patients with epilepsy and YWHAG variants in our Chinese cohort (nine males, six females; median age: 6 years 4 months; range: 1 year 6 months-12 years 8 months) and 40 patients with epilepsy with YWHAG variants...

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Source

Identifiers

PMID: 40186408
DOI: 10.1111/dmcn.16320

Genes

YWHAG

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

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