Valentina Rizzo

1 month ago | onlinelibrary.wiley.com | Valentina Rizzo |Robin-Tobias Jauss |Tobias Bartolomaeus |María Escolar

MBOAT7 encephalopathy is a rare autosomal recessive cause of neurodevelopmental disorders and epilepsy. A gene-specific electroclinical syndrome remains to be characterized. The seizure semiology is heterogeneous, and one third of patients have treatment-resistant seizures. 1 INTRODUCTION The mammalian membrane-bound o-acyltransferase (MBOAT) protein family comprises several acyltransferases, and each of them has a unique preference toward specific acyl donors and acceptors.