Novel mutations in pyridoxine-dependent epilepsy.

Abstract : 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.
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Article dans une revue
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2011, 15 (1), pp.74-7. 〈10.1016/j.ejpn.2010.03.011〉
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http://www.hal.inserm.fr/inserm-00593974
Contributeur : Colin Deransart <>
Soumis le : mercredi 18 mai 2011 - 12:24:45
Dernière modification le : jeudi 1 février 2018 - 01:12:07

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Arnaud Millet, Gajja Salomons, Fabrice Cneude, Christelle Corne, Thierry Debillon, et al.. Novel mutations in pyridoxine-dependent epilepsy.. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2011, 15 (1), pp.74-7. 〈10.1016/j.ejpn.2010.03.011〉. 〈inserm-00593974〉

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