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Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.一名患有IQSEC2基因突变儿童的智力残疾、自闭症和癫痫的发育进程。
Clin Case Rep. 2017 Aug 24;5(10):1639-1643. doi: 10.1002/ccr3.1139. eCollection 2017 Oct.
2
Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms.对呈现瑞特样表型和婴儿痉挛症的IQSEC2相关脑病中类固醇的反应
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IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.IQSEC2 突变与癫痫、智力障碍和自闭症有关，导致患者来源的神经元过度兴奋和突触传递缺陷。
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4
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.IQSEC2相关癫痫的分子和表型谱。
Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.
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An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.一种与智力残疾和自闭症相关的IQSEC2突变导致表面AMPA受体减少。
Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019.
6
IQSEC2-Associated Intellectual Disability and Autism.IQSEC2 相关的智力残疾和自闭症。
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Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.在人类 A350V IQSEC2 突变的小鼠模型中自发性癫痫发作和 EEG 异常的特征，以及确定一种可能的精准医学治疗靶点。
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8
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.已知的与智力残疾和癫痫相关的基因IQSEC2剂量错误会破坏树突棘形态发生。
Transl Psychiatry. 2017 May 2;7(5):e1110. doi: 10.1038/tp.2017.81.
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The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.IQSEC2在综合征性智力障碍中的作用：缩短诊断历程。
Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.
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Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.每日简报 热疗可减少 A350V IQSEC2 小鼠的癫痫发作，并与 AMPA 受体介导的突触功能障碍的纠正相关。
Int J Mol Sci. 2023 Feb 15;24(4):3924. doi: 10.3390/ijms24043924.

引用本文的文献

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Impaired emotion recognition in Cntnap2-deficient mice is associated with hyper-synchronous prefrontal cortex neuronal activity.Cntnap2基因缺陷小鼠的情感识别受损与前额叶皮质神经元活动过度同步有关。
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Natural Course of -Related Encephalopathy: An Italian National Structured Survey.与……相关的脑病的自然病程：一项意大利全国性结构化调查。 （你提供的原文“Natural Course of -Related Encephalopathy”中“of”后面似乎缺少具体内容）
Children (Basel). 2023 Aug 24;10(9):1442. doi: 10.3390/children10091442.
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Reduction in seizure burden in a child with a A350V IQSEC2 mutation using heat therapy with a Jacuzzi.一名携带A350V IQSEC2突变的儿童通过使用按摩浴缸进行热疗减轻癫痫发作负担。
Clin Case Rep. 2021 Aug 30;9(9):e04734. doi: 10.1002/ccr3.4734. eCollection 2021 Sep.
4
Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.药物调节 AMPA 受体可挽救与 A350V Iqsec2 突变相关的特定社会行为障碍。
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Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior.在表现出自闭症样行为的 A350V Iqsec2 突变体小鼠中，大脑结构和功能的广泛改变。
Transl Psychiatry. 2021 Mar 22;11(1):181. doi: 10.1038/s41398-021-01289-8.
6
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.一种与智力残疾和自闭症相关的IQSEC2突变导致表面AMPA受体减少。
Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019.

本文引用的文献

1
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.IQSEC2相关癫痫的分子和表型谱。
Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.
2
IQSEC2 and X-linked syndromal intellectual disability.IQSEC2与X连锁综合征型智力障碍
Psychiatr Genet. 2016 Jun;26(3):101-8. doi: 10.1097/YPG.0000000000000128.
3
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.一名患有严重智力障碍和自闭症特征女孩中逃逸基因KDM5C和IQSEC2的微缺失。
Eur J Med Genet. 2015 May;58(5):324-7. doi: 10.1016/j.ejmg.2015.03.003. Epub 2015 Apr 7.
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Autism spectrum disorder: advances in evidence-based practice.自闭症谱系障碍：循证实践的进展
CMAJ. 2014 Apr 15;186(7):509-19. doi: 10.1503/cmaj.121756. Epub 2014 Jan 13.
5
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.诊断性外显子组测序鉴定出两个与伴有癫痫的X连锁智力障碍相关的新型IQSEC2突变：对遗传咨询和临床诊断的意义。
J Genet Couns. 2014 Jun;23(3):289-98. doi: 10.1007/s10897-013-9671-6. Epub 2013 Dec 4.
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De novo mutations in epileptic encephalopathies.癫痫性脑病中的从头突变。
Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
7
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.IQSEC2 鸟嘌呤核苷酸交换因子基因突变导致非综合征性智力障碍。
Nat Genet. 2010 Jun;42(6):486-8. doi: 10.1038/ng.588. Epub 2010 May 16.
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Management of children with autism spectrum disorders.自闭症谱系障碍儿童的管理
Pediatrics. 2007 Nov;120(5):1162-82. doi: 10.1542/peds.2007-2362. Epub 2007 Oct 29.
9
Psychopharmacotherapy in children and adults with intellectual disability.针对患有智力障碍的儿童和成人的心理药物治疗。
Lancet. 1999 Jul 17;354(9174):233-42. doi: 10.1016/S0140-6736(98)07059-7.

一名患有IQSEC2基因突变儿童的智力残疾、自闭症和癫痫的发育进程。

Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.

作者信息

Zipper Rachelle, Baine Sherri D, Genizi Jacob, Maoz Hen, Levy Nina S, Levy Andrew P

机构信息

Technion Faculty of Medicine Technion Israel Institute of Technology Haifa Israel.

Department of Pediatrics North York General Hospital University of Toronto Toronto Ontario Canada.

出版信息

Clin Case Rep. 2017 Aug 24;5(10):1639-1643. doi: 10.1002/ccr3.1139. eCollection 2017 Oct.

DOI:10.1002/ccr3.1139
PMID:29026562
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5628232/
Abstract

The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.

摘要

一名患有自发性IQSEC2基因突变的学龄儿童的神经发育进程显示出明显的发育里程碑和语言倒退。与该疾病相关的癫痫发作对药物治疗无效。对这名儿童的自闭症进行晚期治疗后，其社交技能有所改善。