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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。

Reduction in seizure burden in a child with a A350V IQSEC2 mutation using heat therapy with a Jacuzzi.

作者信息

Levy Andrew P, Levy Nina S, Heyman Eli, Schertz Mitchell, Genizi Jacob

机构信息

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

Department of Pediatric Neurology Assaf Harofeh Medical Center and Tel Aviv University Tel Aviv Israel.

出版信息

Clin Case Rep. 2021 Aug 30;9(9):e04734. doi: 10.1002/ccr3.4734. eCollection 2021 Sep.

DOI:10.1002/ccr3.4734
PMID:34484768
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8405536/
Abstract

A child with a A350V IQSEC2 missense mutation resulting in drug-resistant epilepsy stops having seizures when he has a fever. We demonstrate that raising the body temperature of the child using a commercial Jacuzzi dramatically reduces his seizures and appears to improve his social behavioral interactions.

摘要

一名患有导致耐药性癫痫的A350V IQSEC2错义突变的儿童在发烧时停止发作。我们证明，使用商用按摩浴缸提高该儿童的体温可显著减少其癫痫发作，并且似乎能改善他的社交行为互动。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7275/8405536/f48b0f0c1335/CCR3-9-e04734-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7275/8405536/2a6a702d9184/CCR3-9-e04734-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7275/8405536/f48b0f0c1335/CCR3-9-e04734-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7275/8405536/2a6a702d9184/CCR3-9-e04734-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7275/8405536/f48b0f0c1335/CCR3-9-e04734-g003.jpg

相似文献

1
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.
2
Housing of A350V IQSEC2 pups at 37 °C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood.将 A350V IQSEC2 幼崽饲养在 37°C 的环境温度下可防止癫痫发作，并允许其在成年后发展出社交发声。
Int J Hyperthermia. 2021;38(1):1495-1501. doi: 10.1080/02656736.2021.1988730.
3
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.
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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。
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引用本文的文献

1
Molecular Insights into IQSEC2 Disease.IQSEC2 病的分子机制研究
Int J Mol Sci. 2023 Mar 5;24(5):4984. doi: 10.3390/ijms24054984.
2
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.

本文引用的文献

1
Could Heat Therapy Be an Effective Treatment for Alzheimer's and Parkinson's Diseases? A Narrative Review.热疗法能否成为治疗阿尔茨海默病和帕金森病的有效方法？一项叙述性综述。
Front Physiol. 2020 Jan 10;10:1556. doi: 10.3389/fphys.2019.01556. eCollection 2019.
2
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.
3
The Hsp70-Hsp90 Chaperone Cascade in Protein Folding.
热休克蛋白 70-90 伴侣蛋白折叠中的级联反应。
Trends Cell Biol. 2019 Feb;29(2):164-177. doi: 10.1016/j.tcb.2018.10.004. Epub 2018 Nov 28.
4
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.IQSEC2 突变更新及女性特异性表型谱综述，包括智力残疾和癫痫。
Hum Mutat. 2019 Jan;40(1):5-24. doi: 10.1002/humu.23670. Epub 2018 Nov 8.
5
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.IQSEC2 相关脑病：包括 37 例新病例的男女比较研究。
Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12.
6
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.
7
The effect of passive heating on heat shock protein 70 and interleukin-6: A possible treatment tool for metabolic diseases?被动加热对热休克蛋白70和白细胞介素-6的影响：代谢疾病的一种可能治疗手段？
Temperature (Austin). 2017 Mar 9;4(3):292-304. doi: 10.1080/23328940.2017.1288688. eCollection 2017.
8
Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.自闭症谱系障碍儿童伴发热改善：来自西蒙斯单纯型收藏的见解。
Autism Res. 2018 Jan;11(1):175-184. doi: 10.1002/aur.1856. Epub 2017 Aug 31.
9
HSP90 Shapes the Consequences of Human Genetic Variation.热休克蛋白90塑造人类遗传变异的后果。
Cell. 2017 Feb 23;168(5):856-866.e12. doi: 10.1016/j.cell.2017.01.023. Epub 2017 Feb 16.
10
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Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.