机构:
Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R ChinaThird Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China
Qu, Song
[1
]
Wang, Junyi
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Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R ChinaThird Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China
Wang, Junyi
[1
]
Guan, Xingying
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Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R ChinaThird Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China
Guan, Xingying
[1
]
Song, Cui
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机构:
Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Endocrinol & Genet Metab Dis, Minist Educ,Key Lab Child Dev & Disorders,Chongq, Chongqing, Peoples R ChinaThird Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China
Song, Cui
[2
]
Wang, Yanyan
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Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R ChinaThird Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China
Wang, Yanyan
[1
]
机构:
[1] Third Mil Med Univ, Army Med Univ, Coll Basic Med Sci, Dept Med Genet, Chongqing, Peoples R China
[2] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Endocrinol & Genet Metab Dis, Minist Educ,Key Lab Child Dev & Disorders,Chongq, Chongqing, Peoples R China
Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of new treatment, sleep disturbance is reported to occur in 70-80% of patients with AS and has a serious impact on the lives of patients and their families. Although clinical studies and animal model studies have provided some clues, recent research into sleep disorders in the context of AS is still very limited. It is generally accepted that there is an interaction between neurodevelopment and sleep; however, there is no recognized mechanism for sleep disorders in AS patients. Accordingly, there are no aetiologically specific clinical treatments for AS-related sleep disorders. The most common approaches involve ameliorating symptoms through methods such as behavioural therapy and symptomatic pharmacotherapy. In recent years, preclinical and clinical studies on the targeted treatment of AS have emerged. Although precision therapy for restoring the UBE3A level and the function of its signalling pathways is inevitably hindered by many remaining obstacles, this approach has the potential to address AS-related sleep disturbance.
机构:
Massachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USA
Larson, Anna M.
Shinnick, Julianna E.
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Massachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USA
Shinnick, Julianna E.
Shaaya, Elias A.
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Massachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USA
Shaaya, Elias A.
Thiele, Elizabeth A.
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Massachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USA
Thiele, Elizabeth A.
Thibert, Ronald L.
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Massachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pediat Epilepsy Program, Dept Neurol, Boston, MA 02114 USA
机构:
Mayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USAMayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Ryan, Conor S.
Edlund, Wendy
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Mayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USAMayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Edlund, Wendy
Mandrekar, Jay
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Mayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Mayo Clin, Dept Hlth Sci Res, Rochester, MN USAMayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Mandrekar, Jay
Wong-Kisiel, Lily C.
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Mayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USAMayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Wong-Kisiel, Lily C.
Gavrilova, Ralitza H.
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机构:
Mayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Mayo Clin, Dept Genet, Rochester, MN USAMayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
Gavrilova, Ralitza H.
Kotagal, Suresh
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机构:
Mayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USAMayo Clin, Dept Neurol, 200 First St SW, Rochester, MN 55905 USA
机构:
Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USAMassachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA
Conant, Kerry D.
Thibert, Ronald L.
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机构:
Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USAMassachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA
Thibert, Ronald L.
Thiele, Elizabeth A.
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机构:
Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USAMassachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Program, Boston, MA 02114 USA