Browsing NTNU Open by Author "Kristensen, Erle"

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    • Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency 

      Böhm, Hans-Otto; Yazdani, Mazyar; Mørk Sandås, Elise; Østeby Vassli, Anja; Kristensen, Erle; Rootwelt, Helge; Skogvold, Hanne Bendiksen; Brodtkorb, Eylert; Elgstøen, Katja B. Prestø (Peer reviewed; Journal article, 2022)
      Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and ...

    • The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study 

      Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine; Arntsen, Vibeke; Sikric, Alma; Kupliauskiene, Guste; Myren-Svelstad, Sverre; Berland, Siren; Sejersted, Yngve; Gerstner, Thorsten Alfons; Hassel, Bjørnar; Bindoff, Laurence Albert; Brodtkorb, Eylert August (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 ...