Associated Papers
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
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
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
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