HGG advances
EEFSEC deficiency underlies a human selenopathy with primary neurodevelopmental origins via midbrain-hindbrain hypoplasia.
Zhiyi Xia, Hui Liu, Pengbo Guo, Chongfen Chen, Lili Ge, Longfei Tang, Yaodong Zhang, Yanli Ma
Published: 202610.1016/j.xhgg.2026.100563
Abstract
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 con…
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