Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation.
作者信息
Saini Lokesh, Krishna Deepthi, Gunasekaran Pradeep Kumar, Tiwari Sarbesh, Kumar Prawin
机构信息
Department of Pediatrics All India Institute of Medical Sciences Jodhpur India.
Department of Diagnostic and Interventional Radiology All India Institute of Medical Sciences Jodhpur India.
出版信息
Mov Disord Clin Pract. 2023 Jan 10;10(3):521-523. doi: 10.1002/mdc3.13651. eCollection 2023 Mar.
Abstract
摘要
相似文献
1
Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation.吡哆醇依赖性癫痫：一种伴有肌张力障碍和先天性白内障并存在新型突变的可治疗癫痫综合征。
Mov Disord Clin Pract. 2023 Jan 10;10(3):521-523. doi: 10.1002/mdc3.13651. eCollection 2023 Mar.
2
Congenital cataract in a child with pyridoxine-dependent epilepsy.一名患有吡哆醇依赖性癫痫的儿童的先天性白内障。
J AAPOS. 2013 Jun;17(3):315-7. doi: 10.1016/j.jaapos.2013.01.006. Epub 2013 Apr 18.
3
Treatable Cause of Refractory Seizures in an Infant with a Novel Mutation.一名具有新型突变的婴儿难治性癫痫的可治疗病因
J Pediatr Neurosci. 2021 Jan-Mar;16(1):69-70. doi: 10.4103/jpn.JPN_68_20. Epub 2021 Jun 25.
4
Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.吡哆醇依赖性癫痫是由 PLPBP 基因中的一种新型纯合突变引起的。
Metab Brain Dis. 2022 Dec;37(8):3027-3032. doi: 10.1007/s11011-022-01085-3. Epub 2022 Oct 29.
5
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.
6
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.先天性珊瑚状白内障是 CRYGD 基因突变反复发生的主要后果。
Orphanet J Rare Dis. 2023 Jul 21;18(1):200. doi: 10.1186/s13023-023-02816-0.
7
8
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants.维生素B6依赖型癫痫的非典型表现：婴儿难治性癫痫的可治疗病因。
Ann Neurol. 1985 Feb;17(2):117-20. doi: 10.1002/ana.410170203.
9
Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.证实 基因突变是维生素 B 依赖性癫痫的一个新病因。
J Med Genet. 2017 Dec;54(12):809-814. doi: 10.1136/jmedgenet-2017-104521. Epub 2017 Apr 8.
10
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.吡哆醇依赖性癫痫患者停用吡哆醇后癫痫复发。
Brain Dev. 2015 Apr;37(4):442-5. doi: 10.1016/j.braindev.2014.07.008. Epub 2014 Aug 7.
本文引用的文献
1
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.维生素B6依赖型癫痫和抗泛素缺乏导致新生儿期起病的难治性癫痫发作。
Brain Sci. 2021 Dec 31;12(1):65. doi: 10.3390/brainsci12010065.
2
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.
3
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.
4
Current treatment and management of pyridoxine-dependent epilepsy.吡哆醇依赖性癫痫的当前治疗与管理
Curr Treat Options Neurol. 2015 Feb;17(2):335. doi: 10.1007/s11940-014-0335-0.
5
Congenital cataract in a child with pyridoxine-dependent epilepsy.一名患有吡哆醇依赖性癫痫的儿童的先天性白内障。
J AAPOS. 2013 Jun;17(3):315-7. doi: 10.1016/j.jaapos.2013.01.006. Epub 2013 Apr 18.
6
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.
Zotero 插件