Emerging Therapies and challenges for individuals with Angelman syndrome

被引:3
作者
Heussler, Helen S. [1 ,2 ,3 ]
机构
[1] Childrens Hlth Queensland, Child Dev Program, Brisbane, Qld, Australia
[2] Childrens Hlth Queensland, Ctr Clin Trials Rare Neurodev Disorders, Brisbane, Qld, Australia
[3] Univ Queensland, Ctr Childrens Hlth Res, Brisbane, Qld, Australia
关键词
Angelman syndrome; biomarkers; epilepsy; therapeutics; EEG BIOMARKER; MOUSE MODEL; RHYTHMICITY; EXPRESSION; TRIAL; SLEEP;
D O I
10.1097/YCO.0000000000000674
中图分类号
R749 [精神病学];
学科分类号
100205 ;
摘要
Purpose of review This review describes current understandings in the search for therapies to support children with Angelman syndrome. There is a rapid progression in particular in genetic therapies in this disorder supported by the Angelman community. Recent findings Recent papers shed light on the timing of therapies and novel genetic therapies coming to trial as well as potential therapies still in preclinical phases. Further understanding of UBE3A and its role in neuronal development and plasticity as well as other mechanisms contributing to the Angelman phenotype is offering an opportunity for novel therapeutics. Greater understanding of the pathophysiology of the different phenotypes will offer an opportunity for novel therapeutics and may well change the course of this disorder over time where previously there has been minimal ability to intervene.
引用
收藏
页码:123 / 128
页数:6
相关论文
共 50 条
  • [21] Benefit of Corticosteroid Therapy in Angelman Syndrome
    Forrest, Katharine M. L.
    Young, Helen
    Dale, Russell C.
    Gill, Deepak S.
    JOURNAL OF CHILD NEUROLOGY, 2009, 24 (08) : 952 - 958
  • [22] Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling
    Dhanya Yesodharan
    M. V. Thampi
    Teena Koshy
    Sheela Nampoothiri
    The Indian Journal of Pediatrics, 2014, 81 : 292 - 295
  • [23] Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling
    Yesodharan, Dhanya
    Thampi, M. V.
    Koshy, Teena
    Nampoothiri, Sheela
    INDIAN JOURNAL OF PEDIATRICS, 2014, 81 (03) : 292 - 295
  • [24] Genetic counseling in Angelman syndrome: The challenges of multiple causes
    Stalker, HJ
    Williams, CA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 77 (01): : 54 - 59
  • [25] Myoclonus in Angelman syndrome
    Pollack, Sarah F.
    Grocott, Olivia R.
    Parkin, Kimberly A.
    Larson, Anna M.
    Thibert, Ronald L.
    EPILEPSY & BEHAVIOR, 2018, 82 : 170 - 174
  • [26] Educational Priorities for Individuals with Angelman Syndrome: A Study of Parents’ Perspectives
    Maartje Radstaake
    Robert Didden
    Nienke Peters-Scheffer
    Jeff Sigafoos
    Hubert Korzilius
    Leopold M. G. Curfs
    Journal of Developmental and Physical Disabilities, 2014, 26 : 299 - 316
  • [27] Angelman syndrome in adulthood
    Laan, LAEM
    denBoer, AT
    Hennekam, RCM
    Renier, WO
    Brouwer, OF
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 66 (03): : 356 - 360
  • [28] Angelman Syndrome in Adulthood
    Larson, Anna M.
    Shinnick, Julianna E.
    Shaaya, Elias A.
    Thiele, Elizabeth A.
    Thibert, Ronald L.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (02) : 331 - 344
  • [29] Communication profiles of individuals with Down syndrome, Angelman syndrome and pervasive developmental disorder
    Duker, PC
    van Driel, S
    van de Bercken, J
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2002, 46 : 35 - 40
  • [30] Educational Priorities for Individuals with Angelman Syndrome: A Study of Parents' Perspectives
    Radstaake, Maartje
    Didden, Robert
    Peters-Scheffer, Nienke
    Sigafoos, Jeff
    Korzilius, Hubert
    Curfs, Leopold M. G.
    JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES, 2014, 26 (03) : 299 - 316