RARS1‐related developmental and epileptic encephalopathy

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...

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Detalles Bibliográficos
Autores principales: Wan, Lin, Yu, Dan, Li, Zhichao, Liu, Xinting, Liang, Yan, Yan, Huimin, Zhu, Gang, Zhang, Bo, Yang, Guang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472388/
https://www.ncbi.nlm.nih.gov/pubmed/37186453
http://dx.doi.org/10.1002/epi4.12751

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