Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Human Mutation | January 6, 2022 | Volume: 43 | Issue: 3 | Pages: 403-419
10.1002/humu.24326
| PMID 34989426