Novel mutations in pyridoxine-dependent epilepsy

被引：22

作者：

Millet, A. ^{[1
]}

Salomons, G. S. ^{[3
]}

Cneude, F. ^{[1
]}

Corne, C. ^{[2
]}

Debillon, T. ^{[1
]}

Jakobs, C. ^{[3
]}

Struys, E. ^{[3
]}

Hamelin, S. ^{[4
,5
]}

机构：

[1] Grenoble Univ Hosp, Div Neonatol, Dept Paediat, Grenoble, France

[2] CHU Grenoble, Metab Lab, Grenoble, France

[3] Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

[4] Grenoble Univ Hosp, Neurophysiol Unit, Grenoble, France

[5] INSERM U836 UJF CEA, Grenoble Neurosci Inst, Grenoble, France

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2011年 / 15卷 / 01期

关键词：

Pyridoxine-dependent; Epilepsy; Neonates; Seizure; Compound heterozygote; ALPHA-AMINOADIPIC SEMIALDEHYDE; SEIZURES; ANTIQUITIN; EPIDEMIOLOGY; DIAGNOSIS;

D O I：

10.1016/j.ejpn.2010.03.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：74 / 77

页数：4

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