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Article

RARS1-related developmental and epileptic encephalopathy.

Epilepsia open - 1 Sept 2023

Wan Lin, Yu Dan, Li Zhichao, Liu Xinting, Liang Yan, Yan Huimin, Zhu Gang, Zhang Bo, Yang Guang

Abstract excerpt

OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy-9 and developmental and epileptic encephalopathy (DEE). This study aimed to better understand the RARS1 biallelic mutations and the associated phenotypes, particularly in patients with DEE. METHODS:...

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Identifiers

PMID: 37186453
DOI: 10.1002/epi4.12751
PMCID: PMC10472388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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