RARS1-related developmental and epileptic encephalopathy.

Lin WanDan YuZhichao LiXinting LiuYan LiangHuimin YanGang ZhuBo ZhangGuang Yang

Published in: Epilepsia open (2023)

Patients with RARS1 biallelic mutations frequently exhibit DEE, a severe phenotype, along with hypomyelinating leukodystrophy. Besides its effects on the white matter, this mutation also influences cortical development. Moreover, the variants c.5A>T (p.Asp2Val), c.1382G>A (p.Arg461His), and c.1535G>A (p.Arg512Gln) are pathogenic and affect the expression of ArgRS by reducing the protein stability.

Keyphrases

white matter
early onset
poor prognosis
binding protein
copy number
multiple sclerosis
intellectual disability
protein protein
amino acid
drug induced
small molecule
autism spectrum disorder
gene expression