Associated Papers
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Sharma Y et al.
Neuropediatrics, 2022
[Early infantile epileptic encephalopathy due to ITPA mutation].
Alcón-Grases M et al.
Revista De Neurologia, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Sakamoto M et al.
Journal of Human Genetics, 2020
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.
Kaur P et al.
American Journal of Medical Genetics. Part A, 2019
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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