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Article

[Clinical and genetic features of early-onset progressive encephalopathy associated with NAXE gene mutations].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jul 2018

Yu Dan, Zhao Fu-Min, Cai Xiao-Tang, Zhou Hui, Cheng Yan

Abstract excerpt

Early-onset progressive encephalopathy is a lethal encephalopathy caused by NAXE gene mutations. This paper reports the clinical and genetic features of a patient with early-onset progressive encephalopathy. A 4-year-old boy admitted to the hospital had repeated walking instability and limb weakness for 2 years. The patient and his elder brother (already dead) had clinical onset at 2 years of age. Both of them...

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Identifiers

PMID: 30022751
PMCID: PMC7389208

Genes

NAXE

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