ITPA Related Developmental Encephalopathy: Key Role of Neuroimaging
- PMID: 35342253
- PMCID: PMC8954321
- DOI: 10.4103/aian.aian_999_21
ITPA Related Developmental Encephalopathy: Key Role of Neuroimaging
Conflict of interest statement
There are no conflicts of interest.
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References
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- Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, et al. Recessive ITPA mutations cause an early infantile encephalopathy. Ann Neurol. 2015;78:649–58. - PubMed
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- Kaur P, Neethukrishna K, Kumble A, Girisha KM, Shukla A. Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. Am J Med Genet A. 2019;179:857–61. - PubMed
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- Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, et al. A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. J Hum Genet. 2020;65:751–7. - PubMed
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