Clinical characterization of IRF2BPL mutation: Case series and review of the literature

We have come across a case of recurrent seizures of epilepsy and dystonia due to a mutation in the IFR2BPL gene for which no definitive treatment has been found. Recently, several studies have led to the discovery of a new drug for the treatment of NEDAMSS. CuII (atsm) (copper II diacetylbis(4-methylaminouracil)) (CuATSM) is a small-molecular-weight drug that can be administered orally and then used in the human body. The literature suggests that the underlying mechanism of CuATSM involves the restoration of mitochondrial function, including correction of the mitochondrial differentiation and mislocalization observed in cells from NEDAMSS patients, but extensive trials are needed to demonstrate its efficacy in IFR2BPL-related diseases.