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A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Cytogenetic and genome research - 1 Jan 2023

Cheng Haiying, Miao Pu, Wang Ye, Guo Yufan, Gao Liuyan, Lou Yuting, Yang Fan, Liang Mengmeng, Feng Jianhua

Abstract excerpt

Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and developmental delay or regression. To date, limited studies have reported DEEs driven by FGF13. Here, we reported a girl with developmental and epileptic encephalopathy 90 caused by variant of FGF13. Her...

Topics

Humans
Female
East Asian People
Phenotype
Epilepsy
Seizures

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37536293
DOI: 10.1159/000531932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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