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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

Masamune Sakamoto1,2, Den Kouhei1, Muzhirah Haniffa3

  • 1Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

Journal of Human Genetics
|May 15, 2020
PubMed
Summary

Biallelic variants in the ITPA gene cause severe epileptic encephalopathies, impacting myelination and development. This study identifies two new ITPA variants linked to these severe neurological conditions in infants.

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