Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

机译：由新的纯合PNPO突变引起的吡醇反应性癫痫

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摘要

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14 months is normal.

机译：我们报告了一名抗癫痫治疗难治性新生儿癫痫发作对吡x醇有反应的患者。生化分析显示抗排蛋白缺乏症的正常标志物，并且ALDH7A1（抗排蛋白）基因的突变分析为阴性。 PNPO基因的突变分析显示出一种新的，纯合的，推测的致病性突变（c.481C> T; p。（Arg161Cys））。吡ido醇给药后，脑脊液样品中B6维生素的测量结果表明，吡x醇胺升高是PNPO缺乏的唯一代谢指标。吡ido醇单药治疗可使患者无癫痫发作，并且14个月大时的神经发育结果正常。

著录项

期刊名称 Molecular Genetics and Metabolism Reports
作者
B. Jaeger; N.G. Abeling; G.S. Salomons; E.A. Struys; M. Simas-Mendes; V.G. Geukers; B.T. Poll-The;
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作者单位

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年(卷),期 2016(6),-1
年度 2016
页码 60–63
总页数 4
原文格式 PDF
正文语种
中图分类遗传学;
关键词
PNPO Pyridoxine Neonatal Epilepsy Pyridoxal-phosphate Antiquitin;

机译：PNPO;吡rid醇;新生儿;癫痫症;磷酸吡rid醛;抗quitin;

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专利

1. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation [J] . B. Jaeger, N.G. Abeling, G.S. Salomons, Molecular Genetics and Metabolism Reports . 2016,第1期

机译：新型纯合PNPO突变引起的吡y醇反应性癫痫
2. Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [J] . Haidar Zahraa, Jalkh Nadine, Corbani Sandra, Seizure: the journal of the British Epilepsy Association . 2018,第期

机译：非典型吡哆醇依赖于新的纯合物畸变突变，在Aldh7a1中引起的癫痫
3. Pyridoxine dependent epilepsy with aldh7a1 mutation: A case report with rare homozygous pathogenic variant in a 21-year old Hong Kong patient [J] . L.L.Y. Tsung, K. Liu Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2017,第期

机译：吡哆醇依赖于Aldh7a1突变的癫痫：一个案例报告，在21岁的香港病人中含有罕见的纯合致病变异
4. Deep Venoys Thrombosis of the Lower Extremity In a 16-Year-OIcl Girl with Homozygous MTHFR- and Heterozygous Factor? Leiden-Mutation [C] . B. Roschitz, W. Muntean, C. Mannhalter, Hemophilie-Symposion . 2004

机译：一个16岁女孩纯合的MTHFR和杂合因子的16岁女孩下肢深静脉血栓形成？莱顿突变
5. An epilepsy-causing human sodium channel mutation reduces activity in inhibitory neurons. [D] . Dutt, Karoni. 2010

机译：引起癫痫的人类钠通道突变会降低抑制性神经元的活性。
6. Pyridoxine responsiveness in novel mutations of the PNPO gene [O] . Barbara Plecko, Karl Paul, Philippa Mills, -1

机译：PNPO基因新突变中的吡rid醇反应性
7. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation [O] . B. Jaeger, N.G. Abeling, G.S. Salomons, 2016

机译：由新型纯合pNpO突变引起的吡哆醇反应性癫痫

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

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