EIF2AK2基因变异致脑白质营养不良1例并文献复习

李润泽, 易致, 宋振凤, 杨成青, 李菲, 薛姣

中国儿童保健杂志 ›› 2025, Vol. 33 ›› Issue (6) : 692-696.

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中国儿童保健杂志 ›› 2025, Vol. 33 ›› Issue (6) : 692-696. DOI: 10.11852/zgetbjzz2024-1498
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EIF2AK2基因变异致脑白质营养不良1例并文献复习

  • 李润泽1, 易致2, 宋振凤1, 杨成青1, 李菲2, 薛姣1
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李润泽, 易致, 宋振凤, 杨成青, 李菲, 薛姣. EIF2AK2基因变异致脑白质营养不良1例并文献复习[J]. 中国儿童保健杂志. 2025, 33(6): 692-696 https://doi.org/10.11852/zgetbjzz2024-1498
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参考文献

[1] Mao D, Reuter CM, Ruzhnikov M, et al.De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation[J].Am J Hum Genet, 2020, 106(4):570-583.
[2] Calame DG, Hainlen M, Takacs D, et al.EIF2AK2-related neurodevelopmental disorder with leukoencephalopathy, developmental delay, and episodic neurologic regression mimics pelizaeus-merzbacher disease[J].Neurol Genet, 2021, 7(1):e539.
[3] Waller SE, Morales-Briceño H, Williams L, et al.Possible EIF2AK2-associated stress-related neurological decompensation with combined dystonia and striatal lesions[J].Mov Disord Clin Pract, 2022, 9(2):240-244.
[4] Macintosh J, Thiffault I, Pastinen T, et al.A recurrent de novo variant in EIF2AK2 causes a hypomyelinating leukodystrophy[J].Child Neurol Open,2023,10.doi: 10.1177/2329048X231176673.
[5] Musacchio T, Zech M, Reich MM, et al.A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia[J].Ann Neurol, 2021, 89(6):1257-1258.
[6] Kuipers D, Mandemakers W, Lu CS, et al.EIF2AK2 missense variants associated with early onset generalized dystonia[J].Ann Neurol, 2021, 89(3):485-497.
[7] Magrinelli F, Moualek D, Tazir M, et al.Heterozygous EIF2AK2 variant causes adolescence-onset generalized dystonia partially responsive to DBS[J].Mov Disord Clin Pract, 2022, 9(2):268-271.
[8] Vanderver A, Prust M, Tonduti D, et al.Case definition and classification of leukodystrophies and leukoencephalopathies[J].Mol Genet Metab, 2015,114(4):494-500.
[9] Lu B, Nakamura T, Inouye K, et al.Novel role of PKR in inflammasome activation and HMGB1 release[J].Nature, 2012, 488(7413):670-674.

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