Rett Syndrome, Kaufmann, Chapter 4 cover

Rett Syndrome – Chapter 4: Genetic Sources of Variation in Rett Syndrome (ebook)

This chapter is part of Rett Syndrome

Product Type: PDF (Sub-Section of Book)

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: September 2017

Page count: 9

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Chapter 4 – Genetic Sources of Variation in Rett Syndrome

Among people who display all the typical features of Rett syndrome (RTT), loss of previously acquired language and hand skills, distinctive repetitive stereotypies, and gait abnormalities, the majority have mutations in the X-linked gene Methyl-CpG-binding protein 2 (MECP2).

About the book

Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant. Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.

Sonia Bjorum Brower, Helen Leonard, Francesca Mari, Alessandra Renieri and Jeffrey L Neul (Authors) Walter E Kaufmann (Editor)

Professor Walter E Kaufmann is Director of the Center for Translational Research and Curry Chair in Genetic Therapeutics at the Greenwood Genetic Center, South Carolina, USA. He is a clinician and researcher whose career has focused on characterizing the neurobehavioral phenotypes and underlying mechanisms of genetic disorders associated with intellectual disability and autism.

Alan Percy

Alan Percy is a Professor in Child Neurology and currently the Interim Director of Clinical Neuroscience at the Civitan International Research Center, University of Alabama School of Medicine, Birmingham , USA. He trained in paediatrics at Stanford University Hospital and specialised in paediatric neurology at the Johns Hopkins University School of Medicine.

Angus Clarke

Professor Angus Clarke is Honorary Consultant in Clinical Genetics at the Institute of Medical Genetics, University Hospital of Wales, UK. He established the Cardiff University MSc course in Genetic Counselling in 2000 and has been Course Director since then. His is also medical advisor to Rett UK.

Helen Leonard and SakkuBai Naidu

Professor Helen Leonard is Senior Research Fellow and Principal Research Fellow at the Telethon Kids Institute, Perth, Western Australia. In 1992 she established the internationally unique, population-based Australian Rett Syndrome Database and has maintained the register since that time. In 2002 she set up the International Rett Syndrome Foundation Phenotype Database, InterRett.

Dr SakkuBai Naidu works as a Pediatric Neurologist at Kennedy Krieger Institute where she also directs Rett syndrome research at the Department of Neurogenetics. Dr Naidu is also a Professor in the Departments of Neurology and Pediatrics at the Johns Hopkins University School of Medicine. Her special interest is in developmental and neurogenetic disorders affecting children and adults.

  • Full book contents
  • AUTHORS’ APPOINTMENTS
  • FOREWORD
  • PREFACE
  • A TRIBUTE TO BENGT HAGBERG, ALAN PERCY
  • PROLOGUE: PERSONAL PERSPECTIVE BENGT HAGBERG, ALISON KERR AND KATHY HUNTER
  • 1. THE DIAGNOSIS OF RETT SYNDROME, WALTER E KAUFMANN AND JEFFREY L NEUL
  • 2. THE NATURAL HISTORY OF RETT SYNDROME: BUILDING ON RECENT EXPERIENCE, ALAN PERCY AND DANIEL GLAZE
  • 3. THE CLINICAL GENETICS OF RETT SYNDROME, ANGUS CLARKE, HAYLEY ARCHER AND JOHN CHRISTODOULOU
  • 4. GENETIC SOURCES OF VARIATION IN RETT SYNDROME, JEFFREY L NEUL, HELEN LEONARD, ALESSANDRA RENIERI, SONIA BROWER AND FRANCESCA MARI
  • 5. COGNITION, BEHAVIOUR AND COMMUNICATION, LEOPOLD MG CURFS, PETER MARSCHIK, GILLIAN S TOWNEND, WALTER E KAUFMANN, ROSA ANGELA FABIO, JEFF SIGAFOOS
  • 6. MOTOR ABNORMALITIES IN RETT SYNDROME, JENNY DOWNS AND TERESA TEMUDO
  • 7. ORTHOPAEDIC ISSUES IN RETT SYNDROME, JENNY DOWNS, DAVID P ROYE, GORDON BAIKIE AND BRENDAN WILLIAMS
  • 8. SLEEP ISSUES IN RETT SYNDROME, CAROLYN ELLAWAY, DANIEL GLAZE, SAROJINI BUDDEN AND YOSHIKO NOMURA
  • 9. EPILEPSY IN RETT SYNDROME, BRURIA BEN-ZEEV, ANDREEA NISSENKORN, MARIA PINTAUDI AND DANIEL GLAZE
  • 10. BREATHING ABNORMALITIES IN RETT SYNDROME, NINO RAMIREZ, CHRISTOPHER S WARD AND JEFFREY L NEUL
  • 11. GROWTH, FEEDING AND NUTRITION, AND BONE HEALTH IN RETT SYNDROME,
  • KATHLEEN MOTIL
  • 12. MOLECULAR COMPLEXITIES OF MECP2 FUNCTION AS A MASTER EPIGENETIC REGULATOR DEFICIENT IN RETT SYNDROME, JANINE M LASALLE AND MICHAEL L GONZALES
  • 13. THE NEUROBIOLOGY OF RETT SYNDROME, WALTER E KAUFMANN, JAMES H EUBANKS, MICHAEL V JOHNSTON AND MARY E BLUE
  • 14. TREATMENTS FOR RETT SYNDROME: PROSPECTS FOR TARGETED THERAPIES,
  • SAKKUBAI NAIDU, WENDY GOLD AND JOHN CHRISTODOULOU
  • 15. REHABILITATION IN RETT SYNDROME, SAROJINI BUDDEN
  • 16. PERSPECTIVES, WALTER E KAUFMANN
  • INDEX