精准医学杂志 (Dec 2024)

Research progress on developmental and epileptic encephalopathy

  • NIU Xueyang, ZHANG Yuehua

DOI
https://doi.org/10.13362/j.jpmed.202406002
Journal volume & issue
Vol. 39, no. 6
pp. 476 – 481

Abstract

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Developmental and epileptic encephalopathy (DEE) is a group of heterogeneous disorders characterized by drug-resistant seizures and neurodevelopmental delay, which can hinder brain development and lead to severe cognitive, behavioral, and motor impairments. DEE is mainly driven by genetic factors, typically with an onset in infancy or early childhood and generally with an overall poor prognosis. This article provides a review of the definition, epilepsy syndromes, genetic etiology, and precision treatment of DEE.

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