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Article

Delineating the epilepsy phenotype of NRROS-related microgliopathy: A case report and literature review.

Seizure - 1 Aug 2022

Madaan Priyanka, Kaushal Yashovardhan, Srivastava Priyanka, Crow Yanick J, Livingston John H, Ahuja Chirag, Sankhyan Naveen

Abstract excerpt

BACKGROUND: Negative regulator of reactive oxygen species (NRROS) related microgliopathy, a rare and recently recognized neurodegenerative condition, is caused by pathogenic variants in the NRROS gene, which plays a major role in the regulation of transforming growth factor-beta 1. METHODS: We report a child presenting with infantile spasms syndrome (ISS) with subsequent progressive neurodegeneration who was...

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Identifiers

PMID: 35716448
DOI: 10.1016/j.seizure.2022.06.001

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