Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

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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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

机译：新型纯合PNPO突变引起的吡y醇反应性癫痫

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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：我们报告了抗癫痫治疗难治性新生儿癫痫发作对吡ido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，ALDH7A1（抗排蛋白）基因的突变分析为阴性。 PNPO基因的突变分析揭示了一种新的，纯合的，推测的致病突变（c.481C> T; p。（Arg161Cys））。吡ido醇给药后脑脊液中B _{6 维生素的测量结果表明，吡pyr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。}

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《Molecular Genetics and Metabolism Reports》 |2016年第1期|共4页
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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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1. 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
2. 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
3. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy [J] . Coci Emanuele G., Codutti Luca, Fink Christian, Molecular and Cellular Probes: The Location, Diagnosis and Monitoring of Disease by Specific Molecules and Cell Lines . 2017,第期

机译：Aldh7a1中的新型纯合物畸形突变导致新生儿吡哆醇依赖性癫痫
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

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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 responsive epilepsy caused by a novel homozygous PNPO mutation [O] . B. Jaeger, N.G. Abeling, G.S. Salomons, 2016

机译：由新的纯合PNPO突变引起的吡醇反应性癫痫
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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