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.
Furthermore, we performed a review of the literature. RESULTS: Two patients with hypomyelinating leukodystrophy were found to have RARS1 biallelic variants (Patient 1: c.1535G>A (p.Arg512Gln) and c.1382G>A (p.Arg461His); Patient 2: homozygous variants c.5A> …
Furthermore, we performed a review of the literature. RESULTS: Two patients with hypomyelinating leukodystrophy were found to …