Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
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DOI: 10.1055/s-0042-1742322
Abstract: BACKGROUND  Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency associated with mutations in the ITPA gene is a recently characterized purine pathway defect that presents with early infantile epileptic encephalopathy and lethal course. This disorder is rare, and… read more here.
Keywords: early infantile; infantile epilepsy; epilepsy associated; epilepsy ... See more keywords