Browsing St. Olavs hospital by Subject "ALDH7A1"
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The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
(Peer reviewed; Journal article, 2023)Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants. While anti-seizure medications are ...