Developmental Malformations
Reducing body myopathy
Feb. 26, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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EEG showed burst suppression in a patient with pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation. The EEG was obtained at the age of 1 month before pyridoxine was used. (Source: Jiao X, Gong P, Niu Y, Zhang Y, Yang Z. A rare presentation characterized by epileptic spasms in ALDH7A1, pyridox[am]ine-5'-phosphate oxidase, and PLPBP deficiency. Front Genet 2022;13:804461. Creative Commons Attribution License [CC BY], creativecommons.org/licenses/by/4.0.)