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锂盐改善了一名患有20号环状染色体且未另行特指的双相情感障碍青少年的行为和癫痫症状。

Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified.

作者信息

Inal Adlane, Chaumette Boris, Soleimani Maryam, Guerrot Anne-Marie, Goldenberg Alice, Lebas Axel, Gerardin Priscille, Ferrafiat Vladimir

机构信息

URHEA Child and Adolescent Psychiatry Intensive Care Unit Centre Hospitalier du Rouvray Sottevile les Rouen France.

Department of Neurology and Neurosurgery McGill University Montreal Canada.

出版信息

Clin Case Rep. 2018 Oct 12;6(11):2234-2239. doi: 10.1002/ccr3.1796. eCollection 2018 Nov.

DOI:10.1002/ccr3.1796
PMID:30455928
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6230629/
Abstract

We present a case of ring chromosome 20 syndrome in a twelve-year-old girl, with resistant epileptic disease and severe behavioral impairment that both drastically improved after a lithium challenge. If replicated, this could support the use of lithium as a safe treatment in the management of this severe phenotype.

摘要

我们报告了一例12岁女孩的20号环状染色体综合征病例,该女孩患有难治性癫痫疾病且有严重的行为障碍,在接受锂盐激发试验后,这两种症状均得到显著改善。如果该结果能得到重复验证,这可能支持将锂盐作为治疗这种严重表型的一种安全疗法。

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1
Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified.锂盐改善了一名患有20号环状染色体且未另行特指的双相情感障碍青少年的行为和癫痫症状。
Clin Case Rep. 2018 Oct 12;6(11):2234-2239. doi: 10.1002/ccr3.1796. eCollection 2018 Nov.
2
[Antipsychotics in bipolar disorders].[双相情感障碍中的抗精神病药物]
Encephale. 2004 Sep-Oct;30(5):417-24. doi: 10.1016/s0013-7006(04)95456-5.
3
[Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome].
Arch Pediatr. 2011 Apr;18(4):394-6. doi: 10.1016/j.arcped.2010.12.025.
4
[Ring chromosome 20: an epileptic channel disorder?].[环状20号染色体:一种癫痫通道疾病?]
Rev Neurol. 2001;32(3):237-41.
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A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.KCNQ2 相关性癫痫性脑病的敲入小鼠模型表现出自发性全身性发作和认知障碍。
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Regional lithium prescription rates and recurrence in bipolar disorder.双相情感障碍的区域锂盐处方率与复发情况
Int J Bipolar Disord. 2021 Jun 1;9(1):18. doi: 10.1186/s40345-021-00223-7.
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Effect of total callosotomy on KCNQ2-related intractable epilepsy.
Brain Dev. 2020 Sep;42(8):612-616. doi: 10.1016/j.braindev.2020.05.005. Epub 2020 Jun 9.
8
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.无亚端粒及CHRNA4-KCNQ2基因位点缺失的20号环状染色体综合征
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引用本文的文献

1
The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.染色体环的过去、现在与未来:人类染色体环国际联盟报告
HGG Adv. 2022 Sep 10;3(4):100139. doi: 10.1016/j.xhgg.2022.100139. eCollection 2022 Oct 13.
2
What is the Role of Lithium in Epilepsy?锂在癫痫中的作用是什么?
Curr Neuropharmacol. 2022;20(10):1850-1864. doi: 10.2174/1570159X20666220411081728.
3
Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases.与常见染色体发育疾病相关的癫痫的治疗

本文引用的文献

1
Using Lithium in Children and Adolescents with Bipolar Disorder: Efficacy, Tolerability, and Practical Considerations.锂在儿童和青少年双相情感障碍中的应用:疗效、耐受性和实际考虑。
Paediatr Drugs. 2018 Aug;20(4):303-314. doi: 10.1007/s40272-018-0289-x.
2
Lithium Treatment in Children and Adolescents.锂治疗儿童和青少年。
Pharmacopsychiatry. 2018 Sep;51(5):189-193. doi: 10.1055/a-0575-4179. Epub 2018 Feb 28.
3
Putative Mechanisms of Action and Clinical Use of Lithium in Children and Adolescents: A Critical Review.锂在儿童和青少年中的作用机制及临床应用:批判性综述。
Open Life Sci. 2020 Feb 28;15:21-29. doi: 10.1515/biol-2020-0003. eCollection 2020.
4
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.20号环状染色体综合征:遗传学、临床特征及重叠表型
Front Neurol. 2020 Dec 8;11:613035. doi: 10.3389/fneur.2020.613035. eCollection 2020.
Curr Neuropharmacol. 2019;17(4):318-341. doi: 10.2174/1570159X16666171219142120.
4
Protective effects of lithium chloride on seizure susceptibility: Involvement of α2-adrenoceptor.氯化锂对癫痫易感性的保护作用:α2肾上腺素能受体的参与
Pharmacol Biochem Behav. 2015 Jun;133:37-42. doi: 10.1016/j.pbb.2015.03.016. Epub 2015 Mar 27.
5
Clinical characteristics associated with lithium use among adolescents with bipolar disorder.双相情感障碍青少年中与锂盐使用相关的临床特征。
J Child Adolesc Psychopharmacol. 2014 Sep;24(7):382-9. doi: 10.1089/cap.2013.0120. Epub 2014 Jul 10.
6
Blue-gray mucocutaneous discoloration: a new adverse effect of ezogabine.蓝灰色黏膜变色:依佐加滨的一种新的不良反应。
JAMA Dermatol. 2014 Sep;150(9):984-9. doi: 10.1001/jamadermatol.2013.8895.
7
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine.20 号环状染色体:一种儿科钾通道病,对依佐加滨治疗有反应。
Pediatr Neurol. 2013 Nov;49(5):368-9. doi: 10.1016/j.pediatrneurol.2013.06.005. Epub 2013 Aug 2.
8
Converging Evidence for Epistasis between ANK3 and Potassium Channel Gene KCNQ2 in Bipolar Disorder.双相障碍中 ANK3 和钾通道基因 KCNQ2 之间的上位性证据汇聚。
Front Genet. 2013 May 17;4:87. doi: 10.3389/fgene.2013.00087. eCollection 2013.
9
Psychiatric disorders after epilepsy diagnosis: a population-based retrospective cohort study.癫痫诊断后的精神障碍:一项基于人群的回顾性队列研究。
PLoS One. 2013;8(4):e59999. doi: 10.1371/journal.pone.0059999. Epub 2013 Apr 5.
10
Ring chromosome 20.环状20号染色体
Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22.