Browsing SIHF Open Archive by Author "Paus, Benedicte"

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    • Epilepsy in classic Rett syndrome: Course and characteristics in adult age 

      Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola; Brodtkorb, Eylert (Peer reviewed; Journal article, 2018)
      Purpose: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study ...

    • Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome 

      Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola Hunsbeth (Peer reviewed; Journal article, 2020)
      Background and purpose: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a ...