Associated Papers
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 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
Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.
Zamzami MA
Cells, 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
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus A et al.
Epilepsia, 2020
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R et al.
Annals of Neurology, 2019
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
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Handley MT et al.
Plos Genetics, 2019
A disease spectrum for ITPA variation: advances in biochemical and clinical research.
Burgis NE
Journal of Biomedical Science, 2016
Recessive ITPA mutations cause an early infantile encephalopathy.
Kevelam SH et al.
Annals of Neurology, 2015
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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