PYRIDOXINE-dependent epilepsy (PDE): An observational study of neonatal cases on the role of pyridoxine in patients treated with standard anti-seizure medications

Author:

Falsaperla Raffaele,Sciacca Monica,Collotta Ausilia DesireeORCID,Tardino Lucia Giovanna,Marino Silvia,Marino Simona Domenica,Privitera Greta Francesca,Vitaliti GiovannaORCID,Ruggieri Martino

Publisher

Elsevier BV

Reference42 articles.

1. Striano P., Battaglia S., Giordano L., Capovilla G., Beccaria F., Strys E.A., et al. Two novel ALDH7A1 (antiquitin) splicing muta- tions associated with pyridoxine-dependent seizures. Epilepsia 1009; 50: 933–6. https://doi.org/10.1111/j.1528-1167.2008.01741.x.

2. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency;Bernhard;Dev Med Child Neurol,2010

3. International league against epilepsy. treatment of seizures in the neonate: guidelines and consensus-based recommendations. Available from: https://www.ilae.org/guidelines/guidelines-and-reports/treatment-of-seizures-in-the-neonateguidelines-and-consensus-based-recommendations.

4. Treatment of seizures in the. Neonate: guidelines and consensus-based recommendations – Special report from the ILAE Task Force on Neonatal Seizures;Pressler;Epilepsia,2023

5. Pyridoxine dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness;Kluger;Neuropediatrics,2008

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