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

• Κύριοι συγγραφείς: Conor Keogh (Συγγραφέας), Giorgio Pini (Συγγραφέας), Adam H. Dyer (Συγγραφέας), Stefania Bigoni (Συγγραφέας), Pietro DiMarco (Συγγραφέας), Ilaria Gemo (Συγγραφέας), Richard Reilly (Συγγραφέας), Daniela Tropea (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2018-10-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...