Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is a severe infantile-onset neurodegenerative disease characterized by refractory epilepsy, developmental regression, and reduced white matter volume with delayed myelination. It has been reported that mutations in NRROS cause this syndrome. NRROS is a leucine-rich repeat-containing transmembrane protein, preferentially expressed in myeloid cells. NRROS is also implicated in osteoclast and neural cell differentiation during development, with reports of an essential role in microglial development.
Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM
タイトル
Bi-allelic LoF NRROS Variants Impairing Active TGF-beta1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
