EEFSEC deficiency underlies a human selenopathy with primary neurodevelopmental origins via midbrain-hindbrain hypoplasia

Summary: 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 neurodegenerativ...

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Autores principales:	Zhiyi Xia, Hui Liu, Pengbo Guo, Chongfen Chen, Lili Ge, Longfei Tang, Yaodong Zhang, Yanli Ma
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Elsevier 2026-04-01
Colección:	HGG Advances
Materias:	EEFSEC selenopathy neurodevelopmental disorder midbrain-hindbrain hypoplasia motor dysfunction zebrafish model
Acceso en línea:	http://www.sciencedirect.com/science/article/pii/S2666247726000035
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