Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

• Auteurs principaux: Conor Keogh (Auteur), Giorgio Pini (Auteur), Adam H. Dyer (Auteur), Stefania Bigoni (Auteur), Pietro DiMarco (Auteur), Ilaria Gemo (Auteur), Richard Reilly (Auteur), Daniela Tropea (Auteur)
• Format: Livre
• Publié: BMC, 2018-10-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld and PSV(Preserved Speech Variant)), the link between causative mutation...