Authors:
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, S. BME, Schanen CN, Zappella M, Renieri A, Huppke P, Percy AK
Authors notes:
Annals of Neurology. 2010; 68(6):944-950
Keywords:
Rett syndrome, RTT, severe neurodevelopmental disease, 1 in 10,000 live female births, mutations in Methyl-CpG-binding protein 2, MECP2
Abstract:
The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.