Autor: Mythily Ganapathi
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A homozygous missense variant in NRROS gene is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome
Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this condition. We describe two siblings from a consanguineous family with this disorder, carrying a homozygous NRROS…