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Case 14 - Pyridoxine-Dependent Epilepsy

from Part V - Cases

Published online by Cambridge University Press:  08 September 2022

By
Saadet Mercimek-Andrews  and
Cecil D. Hahn
Edited by
Cecil D. Hahn  and
Courtney J. Wusthoff
Cecil D. Hahn
Affiliation:
The Hospital for Sick Children, University of Toronto
Courtney J. Wusthoff
Affiliation:
Lucile Packard Children’s Hospital, Stanford University
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Summary

n/a

Keywords

neonateEEGneuromonitoringseizurepyridoxine-dependent epilepsyneonatal onset epilepsyALDH7A1
Type
Chapter
Information
Neuromonitoring in Neonatal and Pediatric Critical Care , pp. 245 - 247
Publisher: Cambridge University Press
Print publication year: 2022

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References

Gospe, SM, Jr. (2014) Pyridoxine-dependent epilepsy. In Pagon, RA, Adam, MP, Ardinger, HH, et al., editors. GeneReviews ® [Internet]. Seattle: University of Washington; 1993–2015. 2001 Dec 07 [updated 2014 Jun 19]Google Scholar
Coughlin, CR 2nd, van Karnebeek, CD, Al-Hertani, W, et al. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome. Mol Genet Metab. 2015;116:35–43.Google Scholar
Jain-Ghai, S, Mishra, N, Hahn, C, Blaser, S, Mercimek-Mahmutoglu, S. Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. Pediatrics. 2014;133(4):E1092–E96.Google Scholar

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