A neuroinflammation gene panel (NIP) identified known pathogenic gene mutations of neuroinflammatory disorders in young people with high sensitivity and specificity. A definitive molecular diagnosis was established for 20% of participants with heterogeneous neuroinflammatory phenotypes.
Why this matters
Neuroinflammatory disorders in young children are characterized by genotypic and phenotypic heterogeneity.
Definitive genetic diagnosis allows young patients with monogenic neuroinflammation to undergo therapeutic stratification in a timely manner.