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A Rare Cause of Paroxysmal Movement Disorder Associated with Mutation in Two Siblings.

作者信息

Sarıgecılı Esra, Anlas Ozlem

机构信息

Department of Pediatric Neurology, University of Health Sciences Adana City Training and Research Hospital, Adana, Turkey.

Department of Medical Genetics, University of Health Sciences Adana City Training and Research Hospital, Adana, Turkey.

出版信息

Ann Indian Acad Neurol. 2023 May-Jun;26(3):290-293. doi: 10.4103/aian.aian_465_22. Epub 2023 Apr 24.

DOI:10.4103/aian.aian_465_22
PMID:37538433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10394464/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/68d0db8e2f05/AIAN-26-290-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/28034cff762b/AIAN-26-290-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/4f2a03b29cb9/AIAN-26-290-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/7b5ef9312443/AIAN-26-290-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/68d0db8e2f05/AIAN-26-290-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/28034cff762b/AIAN-26-290-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/4f2a03b29cb9/AIAN-26-290-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/7b5ef9312443/AIAN-26-290-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/456d/10394464/68d0db8e2f05/AIAN-26-290-g004.jpg

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本文引用的文献

1
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.儿童交替性偏瘫伴新型 TBC1D24 突变 1 例报告并文献复习
Neuropediatrics. 2022 Feb;53(1):69-74. doi: 10.1055/s-0041-1739132. Epub 2021 Dec 1.
2
Paroxysmal Movement Disorders.发作性运动障碍
Front Neurol. 2021 Jun 11;12:659064. doi: 10.3389/fneur.2021.659064. eCollection 2021.
3
Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.与癫痫和耳聋相关的 TBC1D24 中的新型变异体：两例报告。
Int J Dev Neurosci. 2021 Feb;81(1):98-105. doi: 10.1002/jdn.10070. Epub 2021 Jan 20.
4
The expanding spectrum of movement disorders in genetic epilepsies.遗传性癫痫中的运动障碍谱不断扩大。
Dev Med Child Neurol. 2020 Feb;62(2):178-191. doi: 10.1111/dmcn.14407. Epub 2019 Nov 29.
5
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.与TBC1D24突变相关的婴儿期发作性运动障碍和发作性共济失调
Neuropediatrics. 2019 Oct;50(5):308-312. doi: 10.1055/s-0039-1688410. Epub 2019 Jun 21.
6
Mutations in a Sibship with Multifocal Polymyoclonus.一个患有多灶性肌阵挛的家族中的突变
Tremor Other Hyperkinet Mov (N Y). 2017 Apr 13;7:452. doi: 10.7916/D8Q52VBV. eCollection 2017.
7
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.由TBC1D24突变引起的致死性家族性新生儿癫痫障碍的临床家族内变异性。
Am J Med Genet A. 2016 Dec;170(12):3207-3214. doi: 10.1002/ajmg.a.37933. Epub 2016 Aug 19.
8
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.TBC1D24基因-表型相关性：癫痫及其他神经学特征
Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.
9
TBC1D24 truncating mutation resulting in severe neurodegeneration.TBC1D24 截断突变导致严重的神经退行性变。
J Med Genet. 2013 Mar;50(3):199-202. doi: 10.1136/jmedgenet-2012-101313. Epub 2013 Jan 23.
10
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.早发性进行性肌阵挛癫痫伴肌张力障碍，定位于16号染色体短臂末端至13.3区。
J Neurogenet. 2010 Dec;24(4):207-15. doi: 10.3109/01677063.2010.514368.