Now showing items 1-3 of 3

  • Henriksen, Mari W; Ravn, Kirstine; Paus, Benedicte; von Tetzchner, Stephen; Skjeldal, Ola H (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases ...
  • Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola; Brodtkorb, Eylert (Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 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 ...
  • Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola Hunsbeth (Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 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 ...