Only recently, a growing body of evidence highlighted a causal relationship between both gain‐ and loss‐of‐function variants in 1 key enzyme of the purine de novo synthetic pathway, inosine‐5‐prime‐monophosphate dehydrogenase type 2 (IMPDH2), and dystonia.20, 21, 22. The gene discussed is IMPDH2; the disease is Dystonia.