Clinical Genetics Department 1

1. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
2. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
3. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
1