Literature

Model or paper type

Primary Cohort

Published observations

7 rows

Curated variants linked

6

Marcogliese et al. 2018 was one of the first papers to connect IRF2BPL changes with a recognizable neurological condition now known as IRF2BPL-related disorder or NEDAMSS. The team described seven people with rare IRF2BPL variants and found an important pattern: truncating variants were linked with regression, seizures, low tone, ataxia, and movement problems, while two missense variants were associated with a milder developmental-delay and seizure picture. Fly studies also supported that IRF2BPL is important for nervous-system development and maintenance.

Model or paper type

Primary Cohort

Published observations

11 rows

Curated variants linked

10

This landmark study identified 11 individuals with rare changes in the IRF2BPL gene, establishing it as a cause of a specific neurodevelopmental disorder now known as NEDAMSS. Researchers found that most affected children began with normal development but later experienced a loss of motor and language skills, often alongside difficult-to-treat seizures and movement challenges. By studying these 11 families, the authors mapped common symptoms and genetic patterns, providing a crucial step for diagnosis and future research into how the IRF2BPL protein affects the brain.