Aicardi‐Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by
pathogenic mutations in genes controlling cellular anti‐viral responses and nucleic acid …

The recent pandemic of coronavirus infectious illness 2019 (COVID19) triggered by SARS-
CoV-2 has rapidly spread around the globe, generating in severe events an acute, highly …

Abstract Background Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy
characterized by early onset of severe neurological injury with intracranial calcifications …

Abstract Three Prime Repair Exonuclease 1 (TREX1) gene mutations have been associated
with Aicardi-Goutières Syndrome (AGS)–a rare, severe pediatric autoimmune disorder that …

The genetic interferonopathies are a heterogeneous group of disorders thought to be
caused by the dysregulated expression of interferons and are now commonly considered in …

NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory
responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams …

Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by
upregulation of type I interferon response. It is associated with increased mortality and …

Interferon‐induced with helicase C domain 1 (IFIH1) is a cytosolic sensor of dsRNA that
induces an anti‐viral Type I interferon (IFN) state. A gain‐of‐function mutation in IFIH1 can …

The hallmark neuropathologic feature of all leukodystrophies is depletion or alteration of the
white matter of the central nervous system; however increasing genetic discoveries highlight …

Intracranial calcification (ICC) occurs in many neurologic disorders both acquired and
genetic. In some inherited white matter disorders, it is a common or even invariable feature …