Following technical and methodological improvements of the last decade, the underlying genes of a number of syndromes involving severe intellectual disability resembling Angelman and Rett syndromes have been identified. In order to keep track with these new entities, this reprint of Molecular Syndromology 2011, Vol. 2, No. 3-5 provides comprehensive reviews of the state of clinical and genetic knowledge for the ‘old’ entities of Angelman and Rett syndromes, as well as the newer syndromes related to MECP2 duplication or defects in the CDKL5, FOXG1, MEF2C, TCF4, NRXN1, CNTNAP2, SHANK3, EHMT1 and FOXP1 genes. The special challenge that presents itself when seeking to establish a diagnosis in adult patients is discussed.

Title: Old and New Entities with Rett or Angelman Syndrome-Like Intellectual Disability
Author: A Rauch -Ed
Publisher: Karger, 2012
ISBN-13: 978-3805599689