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Article

Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.

Neuropediatrics - 1 Jun 2022

Sharma Yashu, Saini Arushi Gahlot, Kaur Rajdeep, Bhatia Vikas, Didwal Gunjan, Kumar Pawan, Uppala Revathi

Abstract excerpt

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 only 12 cases are reported worldwide. METHODS: We report two additional cases of ITPA-associated neurodegeneration and two pathogenic compound...

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PMID: 35098521
DOI: 10.1055/s-0042-1742322

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