Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
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
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
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
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S et al.
Therapeutic Drug Monitoring, 2007
ITPA (inosine triphosphate pyrophosphatase): from surveillance of nucleotide pools to human disease and pharmacogenetics.
Simone PD et al.
Mutation Research, 0
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