儿童维生素反应性癫痫性脑病
Vitamin-responsive epileptic encephalopathies in children.
作者信息
Agadi Satish, Quach Michael M, Haneef Zulfi
机构信息
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA ; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA ; Texas Children's Hospital, 6621 Fannin Street, CCC 1250.03, 12th Floor, Houston, TX 77030, USA.
出版信息
Epilepsy Res Treat. 2013;2013:510529. doi: 10.1155/2013/510529. Epub 2013 Jul 25.
Abstract
Untreated epileptic encephalopathies in children may potentially have disastrous outcomes. Treatment with antiepileptic drugs (AEDs) often may not control the seizures, and even if they do, this measure is only symptomatic and not specific. It is especially valuable to identify potential underlying conditions that have specific treatments. Only a few conditions have definitive treatments that can potentially modify the natural course of disease. In this paper, we discuss the few such conditions that are responsive to vitamin or vitamin derivatives.
摘要
儿童未经治疗的癫痫性脑病可能会产生灾难性后果。使用抗癫痫药物（AEDs）进行治疗往往无法控制癫痫发作，即便能够控制，这种措施也只是对症治疗而非特异性治疗。识别具有特异性治疗方法的潜在基础疾病尤为重要。只有少数疾病有明确的治疗方法，有可能改变疾病的自然病程。在本文中，我们将讨论几种对维生素或维生素衍生物有反应的此类疾病。
相似文献
1
Vitamin-responsive epileptic encephalopathies in children.儿童维生素反应性癫痫性脑病
Epilepsy Res Treat. 2013;2013:510529. doi: 10.1155/2013/510529. Epub 2013 Jul 25.
2
Treatment of Epileptic Encephalopathies.癫痫性脑病的治疗。
Curr Pharm Des. 2017;23(37):5667-5690. doi: 10.2174/1381612823666170809115827.
3
Effects of antiepileptic drugs on the serum folate and vitamin B12 in various epileptic patients.抗癫痫药物对各类癫痫患者血清叶酸和维生素B12的影响。
Biomed Rep. 2016 Oct;5(4):413-416. doi: 10.3892/br.2016.737. Epub 2016 Aug 8.
4
Neonatal vitamin-responsive epileptic encephalopathies.新生儿维生素反应性癫痫性脑病
Chang Gung Med J. 2010 Jan-Feb;33(1):1-12.
5
Effect of Antiepileptic Therapy on Serum 25(OH)D3 and 24,25(OH)2D3 Levels in Epileptic Children.抗癫痫治疗对癫痫患儿血清25(OH)D3和24,25(OH)2D3水平的影响
Ann Nutr Metab. 2016;68(2):119-27. doi: 10.1159/000443535. Epub 2016 Jan 27.
6
Developmental and epileptic encephalopathies: what we do and do not know.发育性和癫痫性脑病：我们知道什么和不知道什么。
Brain. 2021 Feb 12;144(1):32-43. doi: 10.1093/brain/awaa371.
7
Why Are Children With Epileptic Encephalopathies Encephalopathic?为什么患有癫痫性脑病的儿童会出现脑病症状？
J Child Neurol. 2016 Nov;31(13):1495-1504. doi: 10.1177/0883073816662140. Epub 2016 Aug 11.
8
Nonconvulsive status epilepticus in epileptic encephalopathies in childhood.儿童癫痫性脑病中的非惊厥性癫痫持续状态。
Seizure. 2020 Aug;80:212-220. doi: 10.1016/j.seizure.2020.06.024. Epub 2020 Jun 20.
9
Epileptic encephalopathies (including severe epilepsy syndromes).癫痫性脑病（包括严重癫痫综合征）。
Epilepsia. 2012 Sep;53 Suppl 4:114-26. doi: 10.1111/j.1528-1167.2012.03621.x.
10
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.早发性癫痫性脑病遗传病因的诊断方法
J Child Neurol. 2016 Mar;31(4):523-32. doi: 10.1177/0883073815599262. Epub 2015 Aug 13.
引用本文的文献
1
Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report.因 FUT2 基因新突变导致的维生素 B12 反应性发育性和癫痫性脑病：一例报告。
BMC Pediatr. 2024 Sep 30;24(1):622. doi: 10.1186/s12887-024-05106-1.
2
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.病例报告：以呼吸窘迫继以循环衰竭为表现的吡哆醇依赖性癫痫的致命结局。
Front Pediatr. 2022 Jul 28;10:940103. doi: 10.3389/fped.2022.940103. eCollection 2022.
3
Low Serum Pyridoxine Levels Worsen Seizure Control in Adult Epilepsy Patients.血清吡哆醇水平低会使成年癫痫患者的癫痫控制情况恶化。
Cureus. 2022 Jun 5;14(6):e25669. doi: 10.7759/cureus.25669. eCollection 2022 Jun.
4
Status Epilepticus in Neonates and Infants.新生儿和婴儿的癫痫持续状态
Ann Indian Acad Neurol. 2020 Nov-Dec;23(6):747-754. doi: 10.4103/aian.AIAN_189_20. Epub 2020 Dec 18.
5
Inborn Errors of Metabolism in Pediatric Epilepsy.小儿癫痫中的先天性代谢缺陷
J Pediatr Pharmacol Ther. 2019 Sep-Oct;24(5):398-405. doi: 10.5863/1551-6776-24.5.398.
6
Pediatric Compounding Pharmacy: Taking on the Responsibility of Providing Quality Customized Prescriptions.儿科配制药房：肩负起提供优质定制处方的责任。
Children (Basel). 2019 May 4;6(5):66. doi: 10.3390/children6050066.
7
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.下一代测序对小儿癫痫诊断和治疗的影响
Mol Diagn Ther. 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0.
8
Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes.早发性癫痫性脑病及潜在病因的诊断方法
Korean J Pediatr. 2015 Nov;58(11):407-14. doi: 10.3345/kjp.2015.58.11.407. Epub 2015 Nov 22.
9
Status epilepticus and refractory status epilepticus management.癫痫持续状态和难治性癫痫持续状态的管理。
Semin Pediatr Neurol. 2014 Dec;21(4):263-74. doi: 10.1016/j.spen.2014.12.006. Epub 2014 Dec 12.
本文引用的文献
1
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.重新审视生物素反应性基底节疾病：临床、影像学和遗传学发现。
Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26.
2
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.赖氨酸限制饮食治疗吡哆醇依赖性癫痫：初步证据和未来试验。
Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10.
3
Long-term outcome in pyridoxine-dependent epilepsy.吡哆醇依赖性癫痫的长期预后。
Dev Med Child Neurol. 2012 Sep;54(9):849-54. doi: 10.1111/j.1469-8749.2012.04347.x. Epub 2012 Jul 13.
4
Biotinidase deficiency in Pakistani children; what needs to be known and done.
J Pak Med Assoc. 2012 Apr;62(4):312-3.
5
Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency.两名叶酸受体自身抗体介导的原发性脑叶酸缺乏症患者的脑电图和癫痫发作表现。
Epilepsy Behav. 2012 Aug;24(4):507-12. doi: 10.1016/j.yebeh.2012.05.021. Epub 2012 Jun 30.
6
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.叶酸受体 1 突变的分子特征描绘了脑叶酸转运缺陷。
Brain. 2012 Jul;135(Pt 7):2022-31. doi: 10.1093/brain/aws122. Epub 2012 May 13.
7
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".生物素酶缺乏症：“如果非得患上一种遗传性代谢疾病，那这种病就是最好的选择”。
Genet Med. 2012 Jun;14(6):565-75. doi: 10.1038/gim.2011.6. Epub 2012 Jan 5.
8
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.
9
The neurology of biotinidase deficiency.生物素酶缺乏症的神经学表现。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001. Epub 2011 Jun 12.
10
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.脑脊液中的吡哆醛 5'-磷酸；影响浓度的因素。
J Inherit Metab Dis. 2011 Apr;34(2):529-38. doi: 10.1007/s10545-011-9279-7. Epub 2011 Feb 9.
Zotero 插件