Neuro-Ophthalmology & Neuro-Otology
Mar. 13, 2022
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EEG showed hypsarrhythmia during frequent cluster seizures in a patient with pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation. The EEG was obtained at the age of 2 years 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.)