Novel mutations in pyridoxine-dependent epilepsy.

Arnaud Millet; Gajja Salomons; Fabrice Cneude; Christelle Corne; Thierry Debillon; Cornelis Jakobs; Eduard Struys; Sophie Hamelin

doi:10.1016/j.ejpn.2010.03.011

Journal articles

Novel mutations in pyridoxine-dependent epilepsy.

Arnaud Millet ¹ Gajja Salomons ² Fabrice Cneude ^{1, *} Christelle Corne ³ Thierry Debillon ¹ Cornelis Jakobs ² Eduard Struys ² Sophie Hamelin ^{4, 5}

* Corresponding author

1 RHEOP - Registre des Handicaps de l'Enfant et Observatoire Perinatal de l'Isère et des deux Savoie

2 Metabolism Unit

3 Metabolism Laboratory

4 Unité " Epilepsie et Malaises Neurologiques "

5 GIN - Grenoble Institut des Neurosciences

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.

keyword : Pyridoxine-dependent Epilepsy Neonates Seizure Compound heterozygote

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Neurons and Cognition [q-bio.NC]

Complete list of metadatas

https://www.hal.inserm.fr/inserm-00593974
Contributor : Colin Deransart <>
Submitted on : Wednesday, May 18, 2011 - 12:24:45 PM
Last modification on : Tuesday, July 30, 2019 - 2:12:05 PM

Novel mutations in pyridoxine-dependent epilepsy.

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