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Article

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.

Scientific reports - 7 Apr 2017

Arafat Ahmed, Jing Peng, Ma Yuping, Pu Miao, Nan Gai, Fang He, Chen Chen, Fei Yin

Abstract excerpt

Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify...

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Identifiers

PMID: 28387369
DOI: 10.1038/srep46227
PMCID: PMC5384237

Genes

ARX
CDKL5
KCNQ2
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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