Chinese Journal of Child Health Care ›› 2025, Vol. 33 ›› Issue (6): 692-696.DOI: 10.11852/zgetbjzz2024-1498
• Case Report • Previous Articles
Received:
2024-12-23
Revised:
2025-04-15
Online:
2025-06-10
Published:
2025-06-05
李润泽1, 易致2, 宋振凤1, 杨成青1, 李菲2, 薛姣1
通讯作者:
张颖,E-mail:zhangying01225@qdu.edu.com
作者简介:
李润泽(1998—),男,在读硕士研究生,主要研究方向为儿童神经内科。
CLC Number:
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.
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[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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