Abstract:
AIMS:PRRT2 variants are associated with various paroxysmal disorders. To date, more than 90 PRRT2 variants have been reported in PRRT2-related disorders. Lack of functional study in majority of missense variants makes their pathogenicity uncertain. We aim to evaluate the clinical significance of PRRT2 missense variants by performing in vitro experiments. METHODS:We systematically reviewed PRRT2-related disorders and summarized reported PRRT2 missense variants. Protein expression and subcellular localization of mutant PRRT2 were investigated in mammal cells. American College of Medical Genetics and Genomics (ACMG) guidelines were used to analyze the pathogenicity of PRRT2 missense variants. RESULTS:A total of 29 PRRT2 missense variants were identified in PRRT2-related disorders. Ten variants were observed to affect both subcellular localization and protein level, three variants only affect membrane localization, and two variants only affect protein level. According to ACMG guidelines, 15 variants were finally classified as "likely pathogenic", three as "benign", three as "likely benign", and eight as "uncertain significance" variants. The likely pathogenic variants were concentrated in the C-terminal of PRRT2. CONCLUSIONS:The pathogenicity of eight uncertain significance variants needs further investigation. C-terminal of PRRT2 is crucial for its physiological function.
journal_name
CNS Neurosci Therjournal_title
CNS neuroscience & therapeuticsauthors
Zhao SY,Li LX,Chen YL,Chen YJ,Liu GL,Dong HL,Chen DF,Li HF,Wu ZYdoi
10.1111/cns.13147subject
Has Abstractpub_date
2020-01-01 00:00:00pages
39-46issue
1eissn
1755-5930issn
1755-5949journal_volume
26pub_type
杂志文章abstract::Octodon degus (O. degus) is a diurnal rodent that spontaneously develops several physiopathological conditions, analogous in many cases to those experienced by humans. In light of this, O. degus has recently been identified as a very valuable animal model for research in several medical fields, especially those concer...
journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
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journal_title:CNS neuroscience & therapeutics
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abstract:AIMS:Bipolar disorder is characterized by behavioral changes such as risk-taking and increasing goal-directed activities, which may result from altered reward processing. Patients with bipolar disorder show impaired reward learning in situations that require the integration of reinforced feedback over time. In this stu...
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
doi:10.1111/cns.12784
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
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journal_title:CNS neuroscience & therapeutics
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
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更新日期:2012-11-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
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doi:10.1111/cns.12339
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
doi:10.1111/j.1755-5949.2008.00065.x
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,多中心研究
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
doi:10.1111/cns.13127
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pub_type: 杂志文章
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
doi:10.1111/cns.13134
更新日期:2020-01-01 00:00:00
abstract::Tolerance development after successful long-term treatment of bipolar disorder is under recognized, as are ways to prevent or show its occurrence or reverse it once it has occurred. We review the clinical literature which suggests that tolerance can develop to most treatment approaches in bipolar illness and present a...
journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
doi:10.1111/j.1755-5949.2010.00215.x
更新日期:2011-12-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
doi:10.1111/j.1755-5949.2009.00105.x
更新日期:2009-01-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,评审
doi:10.1111/j.1755-5949.2010.00208.x
更新日期:2011-12-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
doi:10.1111/cns.13064
更新日期:2019-02-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
doi:10.1111/cns.12302
更新日期:2014-10-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章,meta分析,评审
doi:10.1111/j.1755-5949.2012.00355.x
更新日期:2012-08-01 00:00:00
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journal_title:CNS neuroscience & therapeutics
pub_type: 杂志文章
doi:10.1111/cns.12711
更新日期:2017-08-01 00:00:00