两名青少年兄弟姐妹中吡哆醇依赖性癫痫的延迟诊断。 - Suppr

Late Diagnosis of Pyridoxine-Dependent Epilepsy in Two Adolescent Siblings.

作者信息

Işıkay Sedat

机构信息

Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey.

出版信息

Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):770-771. doi: 10.4103/aian.AIAN_1282_20. Epub 2021 May 11.

DOI:10.4103/aian.AIAN_1282_20

PMID:35002142

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8680918/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/120f/8680918/433859ef8f38/AIAN-24-770-g001.jpg

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Late Diagnosis of Pyridoxine-Dependent Epilepsy in Two Adolescent Siblings.两名青少年兄弟姐妹中吡哆醇依赖性癫痫的延迟诊断。

Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):770-771. doi: 10.4103/aian.AIAN_1282_20. Epub 2021 May 11.

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.两例吡哆醇依赖性癫痫伴发新型 ALDH7A1 突变患者的长期随访。

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SIGNS OF PYRIDOXINE DEPENDENCY MANIFEST AT BIRTH IN SIBLINGS.吡哆醇依赖性的体征在出生时出现在兄弟姐妹身上。

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Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.维生素B6依赖型癫痫：一种导致严重认知缺陷的家族表型，无论治疗方案如何。

Dev Med Child Neurol. 2007 Apr;49(4):300-5. doi: 10.1111/j.1469-8749.2007.00300.x.

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.维生素B6依赖型癫痫：一种提示性的电临床模式。

Arch Dis Child Fetal Neonatal Ed. 1999 Sep;81(2):F125-9. doi: 10.1136/fn.81.2.f125.

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.钼辅酶缺陷致吡哆醇依赖性癫痫伴高尿α-氨基己二酸半醛。

Pediatrics. 2012 Dec;130(6):e1716-9. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12.

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.吡哆醇依赖型癫痫采用吡哆醇、补充精氨酸和饮食限制赖氨酸的三联疗法：神经发育结局

Mol Genet Metab. 2015 Sep-Oct;116(1-2):35-43. doi: 10.1016/j.ymgme.2015.05.011. Epub 2015 May 23.

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.

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.两名吡哆醇依赖性癫痫患者血浆和脑脊液中哌可酸水平升高。

Ann Neurol. 2000 Jul;48(1):121-5.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?吡哆醇依赖性癫痫：发病晚是预后良好的预测因素吗？

Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30.

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Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.α-氨基己二酸半醛脱氢酶缺乏所致吡哆醇依赖性癫痫的饮食管理，继国际联盟指南之后

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Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis.自闭症、癫痫和发育迟缓中的中枢神经系统代谢：脑脊液分析

Metabolites. 2022 Apr 20;12(5):371. doi: 10.3390/metabo12050371.

本文引用的文献

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?吡哆醇依赖性癫痫：发病晚是预后良好的预测因素吗？

Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30.

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.青少年起病癫痫伴泛素缺乏症：患病后代母亲的分子诊断

Neuropediatrics. 2018 Apr;49(2):154-157. doi: 10.1055/s-0037-1621721. Epub 2018 Feb 5.

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.吡哆醇依赖性癫痫的临床、生化和分子研究。反义治疗作为一种新的可能治疗选择。

Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25.

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.

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.18例北美吡哆醇依赖性癫痫（PDS）患者中ALDH7A1突变的患病率。

Epilepsia. 2009 May;50(5):1167-75. doi: 10.1111/j.1528-1167.2008.01816.x. Epub 2008 Oct 14.

The pediatric neurotransmitter disorders.儿童神经递质紊乱

J Child Neurol. 2007 May;22(5):606-16. doi: 10.1177/0883073807302619.

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.18例吡哆醇依赖性癫痫患者及抗喹啉蛋白（ALDH7A1）基因突变的生化和分子特征

Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.吡哆醇依赖性癫痫患者中抗泛素蛋白的突变

Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19.

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Late Diagnosis of Pyridoxine-Dependent Epilepsy in Two Adolescent Siblings.

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