Article

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

2023-04-12

Abstract excerpt

<h4>Background: </h4> Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can significantly improve seizure control and neurodevelopmental outcomes. Clinic...

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Literature Corpus work: 9b3016a4-2898-5ea3-ae0a-e638dfa6e176
DOI: 10.21203/rs.3.rs-2785967/v1

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