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Epilepsy and Hydrocephalus: Should Pyridoxine-Dependent Epilepsy Cross Our Minds?

作者信息

Kesavan Shivan, Singanamalla Bhanudeep, Krishna Sahitya Dangudubiyyam Sri, Saini Arushi Gahlot, Vyas Sameer

机构信息

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Radiodiagnosis and Imaging, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Ann Indian Acad Neurol. 2020 Mar-Apr;23(2):239-241. doi: 10.4103/aian.AIAN_328_19. Epub 2020 Feb 11.

DOI:10.4103/aian.AIAN_328_19
PMID:32189873
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7061514/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7379/7061514/4fa566286d77/AIAN-23-239-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7379/7061514/cd443c09a908/AIAN-23-239-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7379/7061514/4fa566286d77/AIAN-23-239-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7379/7061514/cd443c09a908/AIAN-23-239-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7379/7061514/4fa566286d77/AIAN-23-239-g002.jpg

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本文引用的文献

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Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.与 Aldh7a1 基因突变相关的脑畸形：报告一例新的纯合突变及文献复习。
Eur J Paediatr Neurol. 2018 Nov;22(6):1042-1053. doi: 10.1016/j.ejpn.2018.06.010. Epub 2018 Jul 3.
2
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.吡哆醇依赖性癫痫中的脑积水：新病例及文献综述。
Brain Dev. 2018 Apr;40(4):348-352. doi: 10.1016/j.braindev.2017.12.005. Epub 2017 Dec 30.
3
Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication.
吡哆醇依赖性癫痫中的梗阻性脑积水：一种罕见的并发症。
Pediatr Neurol. 2017 Apr;69:e1-e2. doi: 10.1016/j.pediatrneurol.2017.01.008. Epub 2017 Jan 17.
4
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.吡哆醇依赖性癫痫：不断扩展的临床谱
Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11.
5
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.抗坏血酸素的神经胶质定位：对吡哆醇依赖性癫痫的影响。
Ann Neurol. 2014 Jan;75(1):22-32. doi: 10.1002/ana.24027. Epub 2014 Jan 2.
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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.吡哆醇依赖性癫痫伴抗坏血酸缺乏症：临床和分子特征及诊断、治疗和随访建议。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24.
7
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).吡哆醇依赖性癫痫（ALDH7A1 缺乏症）的基因型和表型谱。
Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16.
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Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.发作和阵发性事件：提示吡哆醇依赖性癫痫和磷酸吡哆醛氧化酶缺乏症诊断的症状。
Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29.
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