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Current Treatment Options in Neurology
Published in: Current Treatment Options in Neurology 2/2015

01-02-2015 | Pediatric Neurology (R Boustany, Section Editor)

Current Treatment and Management of Pyridoxine-Dependent Epilepsy

Authors: Clara D. M. van Karnebeek, MD PhD FCCMG, Sravan Jaggumantri, B.Tech CCRA

Published in: Current Treatment Options in Neurology | Issue 2/2015

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Opinion statement

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.
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Metadata
Title
Current Treatment and Management of Pyridoxine-Dependent Epilepsy
Authors
Clara D. M. van Karnebeek, MD PhD FCCMG
Sravan Jaggumantri, B.Tech CCRA
Publication date
01-02-2015
Publisher
Springer US
Published in
Current Treatment Options in Neurology / Issue 2/2015
Print ISSN: 1092-8480
Electronic ISSN: 1534-3138
DOI
https://doi.org/10.1007/s11940-014-0335-0

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