RARS1-related developmental and epileptic encephalopathy.
Wan L, Yu D, Li Z, Liu X, Liang Y, Yan H, Zhu G, Zhang B, Yang G.
Wan L, et al.
Epilepsia Open. 2023 Sep;8(3):867-876. doi: 10.1002/epi4.12751. Epub 2023 May 5.
Epilepsia Open. 2023.
PMID: 37186453
Free PMC article.
Review.
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 …
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with centra …