Genetic diagnosis of neuroinflammatory disorders in young children

Takeaway

  • 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.