Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy

J. Gordon Millichap

doi:10.15844/pedneurbriefs-27-3-6

Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs

Volume 27 (2013): Issue 3

By: J. Gordon Millichap

Open Access

|Mar 2013

Abstract

Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.

References

Pérez B Gutiérrez-Solana LG Verdú A Merinero B Yuste-Checa P Ruiz-Sala P Clinical, Biochemical, and molecular studies in pyridoxine-dependent epilepsy: Antisense therapy as possible new therapeutic option Epilepsia 2013 Feb 54 2 239 48 10.1111/epi.12083 23350806
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Bok LA Halbertsma FJ Houterman S Wevers RA Vreeswijk C Jakobs C Long-term outcome in pyridoxine-dependent epilepsy Dev Med Child Neurol 2012 Sep 54 9 849 54 10.1111/j.1469-8749.2012.04347.x 22804844
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Struys EA Nota B Bakkali A Al Shahwan S Salomons GS Tabarki B Pyridoxine-dependent epilepsy with elevated urinary a-amino adipic semialdehyde in molybdenum cofactor deficiency Pediatrics 2012 Dec 130 6 e1716 9 10.1542/peds.2012-1094 23147983
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-3-6 | Journal eISSN: 2166-6482

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Language: English

Page range: 21 - 22

Published on: Mar 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Pyridoxine-Dependent Epilepsy,

MRI Abnormalities,

Molybdenum Cofactor Deficiency

© 2013 J. Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 3