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- W4385803407 endingPage "10.1212/WNL.0000000000207829" @default.
- W4385803407 startingPage "10.1212/WNL.0000000000207829" @default.
- W4385803407 abstract "Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE). PDE occurs secondary to biallelic pathogenic variants in ALDH7A1 and can present with refractory neonatal seizures and status epilepticus. Neonatal seizures and encephalopathy are modifiable with pyridoxine (vitamin B6) supplementation. However, the clinical response to pyridoxine supplementation can be delayed. We present the case of a full-term neonate with PDE in which seizure cessation was seen a few hours after intravenous pyridoxine load, but the improvement in EEG background and level of clinical encephalopathy occurred five days later. We share this case to provide an example in which clinical improvement in PDE was gradual and required continuation of treatment for several days illustrating the necessity of continuing vitamin B6 supplementation in suspected cases until confirmatory genetic testing is obtained or an alternate cause is found." @default.
- W4385803407 created "2023-08-15" @default.
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- W4385803407 date "2023-08-14" @default.
- W4385803407 modified "2023-09-27" @default.
- W4385803407 title "Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy" @default.
- W4385803407 doi "https://doi.org/10.1212/wnl.0000000000207829" @default.
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