
Neurodegeneration, Intracranial Calcifications, Microcephaly and Drug-Resistant Epilepsy Caused by a Novel Homozygous ...
Introduction Negative regulator of reactive oxygen species (NRROS)-related microgliopathy, a rare and recently recognised neurodegenerative disorder, is caused by pathogenic variants of the NRROS gene.1 NRROS encodes a leucine-rich repeat transmembrane …