ITPA Related Developmental Encephalopathy: Key Role of Neuroimaging.
作者信息
Çavuşoğlu Dilek, Kulali Melike Ataseven, Dündar Nihal Olgaç, Gokaslan Cigdem Ozer, Aydin Kurşad
机构信息
Department of Pediatric Neurology, Afyonkarahisar Health Sciences University, Afyon, Turkey.
Department of Pediatric Genetics, Afyonkarahisar Health Sciences University, Afyon, Turkey.
出版信息
Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):133-134. doi: 10.4103/aian.aian_999_21. Epub 2022 Feb 18.
Abstract
摘要
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本文引用的文献
1
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.
Neurology. 2021 Jul 6;97(1):e109-e110. doi: 10.1212/WNL.0000000000011719. Epub 2021 Feb 16.
2
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
J Hum Genet. 2020 Sep;65(9):751-757. doi: 10.1038/s10038-020-0765-3. Epub 2020 May 14.
3
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.
Am J Med Genet A. 2019 May;179(5):857-861. doi: 10.1002/ajmg.a.61103. Epub 2019 Feb 28.
4
Recessive ITPA mutations cause an early infantile encephalopathy.
Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21.
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