PACS1-Neurodevelopmental disorder: clinical features and trial readiness.
Abigail Van NulandTaruna ReddyFarhad QuassemJean-Dominique VassalliAnne T BergPublished in: Orphanet journal of rare diseases (2021)
PACS1-NDD is a moderately-severe intellectual disability syndrome in which seizures occur but are not a defining or primary feature. Successful precision medicine clinical trials for this ultra-rare disorder must target important core features of this disorder and utilize assessment tools commensurate with the level of function in this clinical population.