Novel mutations in pyridoxine-dependent epilepsy
Novel mutations in pyridoxine-dependent epilepsy
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DOI：
10.1016/j.ejpn.2010.03.011
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发表时间：
2011-01-01
影响因子：
3.1
通讯作者：
Hamelin, S.
中科院分区：
文献类型：
--
作者：
Millet, A.;Salomons, G. S.;Hamelin, S.
目的：吡哆醇依赖性癫痫（PDE）是一种罕见的常染色体隐性遗传病，新生儿癫痫发作对常规抗癫痫药物有抗性。这种代谢性疾病必须及早诊断和治疗，以改善预后。我们报告了两个新的突变，打开了新的产前前景，并提出了一个新的诊断程序。病例报告：我们描述了一名携带两种ALDH7A1基因突变的新生儿PDE: c.[852_856delCTTAG] + [1230C > a]；p.[(Phe410Leu)] + p.[(Leu285CysfsX26)]。该病例还说明，由于生物标志物的测量，可以在没有任何吡哆醇停药的情况下做出诊断。患者补充吡哆醇治疗成功，目前神经发育正常。(C) 2010年欧洲儿科神经病学学会。Elsevier Ltd.出版。版权所有。
Purpose: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure.Case report: We describe PDE in a neonate carrying two novel mutations in the ALDH7A1 gene: c.[852_856delCTTAG] + [1230C > A]; p.[(Phe410Leu)] + p.[(Leu285CysfsX26)]. This case also illustrates that diagnosis could have been made without any pyridoxine withdrawal, thanks to the measurement of biomarkers. The patient was successfully treated with pyridoxine supplementation and currently shows normal neurological development. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.