Article
EEFSEC deficiency underlies a human selenopathy with primary neurodevelopmental origins via midbrain-hindbrain hypoplasia.
HGG advances - 9 Apr 2026
Xia Zhiyi, Liu Hui, Guo Pengbo, Chen Chongfen, Ge Lili, Tang Longfei, Zhang Yaodong, Ma Yanli
Abstract excerpt
Bi-allelic mutations in EEFSEC, a key factor in selenoprotein synthesis, cause a severe human selenopathy characterized by developmental delay, spasticity, and profound cerebellar atrophy. While previous studies in invertebrate models framed this condition as an early-onset neurodegenerative disorder, the contribution of primary developmental defects to the severe brain malformations in patients has remained a...
Topics
- Animals
- Zebrafish
- Mesencephalon
- Humans
- Rhombencephalon
- Disease Models, Animal
- Mutation
- Selenoproteins
- Zebrafish Proteins
- Amino Acyl-tRNA Synthetases