Blar i NTNU Open på forfatter "Bindoff, Laurence Albert"
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Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Kristensen, Erle; Mathisen, Linda; Berland, Siren; Klingenberg, Claus Andreas; Brodtkorb, Eylert; Rasmussen, Magnhild; Tangeraas, Trine; Bliksrud, Yngve Thomas; Rahman, Shamima; Bindoff, Laurence Albert; Hikmat, Omar (Journal article; Peer reviewed, 2024)Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population-based, retrospective study using demographic, clinical, and genetic data of ... -
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 ... -
Status epilepticus in POLG disease: a large multinational study
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus Andreas; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2024)We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. ...