Associated Papers
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Sharma Y et al.
Neuropediatrics, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M et al.
Human Mutation, 2022
34989426 (PubMed )
Supplement: HUMU-43-403-s001.xlsx › Table_S1
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Sakamoto M et al.
Journal of Human Genetics, 2020
Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.
Schroader JH et al.
Wiley Interdisciplinary Reviews. Rna, 0
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