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Dravet syndrome Presenting with Extrapyramidal Features, Ataxia and Basal Ganglia Hyperintensity on Brain Magnetic Resonance Imaging.

作者信息

Iype Mary, Sreedharan Mini, Ahamed Shahanaz M, Thomas Elizabeth P, Eapen Merin, Sugunan Sheeja, Saradakutty Geetha, Bindusha S

机构信息

Department of Pediatric Neurology, Government Medical College, Trivandrum, Kerala, India.

Department of Pediatrics, Government Medical College, Trivandrum, Kerala, India.

出版信息

Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):839-841. doi: 10.4103/aian.AIAN_1216_20. Epub 2021 Apr 8.

DOI:10.4103/aian.AIAN_1216_20
PMID:35002176
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8680914/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3566/8680914/51c138f9e011/AIAN-24-839-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3566/8680914/51c138f9e011/AIAN-24-839-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3566/8680914/51c138f9e011/AIAN-24-839-g001.jpg

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本文引用的文献

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The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome.癫痫持续状态后 Dravet 综合征患者的急性脑病的临床转归和神经影像学表现。
Dev Med Child Neurol. 2018 Jun;60(6):566-573. doi: 10.1111/dmcn.13727. Epub 2018 Mar 24.
2
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns.德拉韦特综合征：特征、合并症及照料者关切问题
Epilepsy Behav. 2017 Sep;74:81-86. doi: 10.1016/j.yebeh.2017.06.031. Epub 2017 Jul 18.
3
From genotype to phenotype in Dravet disease.从基因型到Dravet综合征的表型
Seizure. 2017 Jan;44:58-64. doi: 10.1016/j.seizure.2016.10.014. Epub 2016 Oct 21.
4
Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome.颈前屈和左旋多巴反应性帕金森综合征是德热里纳综合征的晚期特征。
Neurology. 2014 Jun 17;82(24):2250-1. doi: 10.1212/WNL.0000000000000521. Epub 2014 May 21.
5
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.德拉韦特综合征：新的潜在遗传修饰因子、影像学异常和发作期表现。
Epilepsia. 2013 Sep;54(9):1577-85. doi: 10.1111/epi.12256. Epub 2013 Jun 28.
6
Cognitive decline in Dravet syndrome: is there a cerebellar role?德拉韦特综合征认知能力下降：小脑是否发挥作用？
Epilepsy Res. 2013 Sep;106(1-2):211-21. doi: 10.1016/j.eplepsyres.2013.03.012. Epub 2013 Apr 30.
7
Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.Dravet 综合征：伴有 SCN1A 基因突变和线粒体电子传递链缺陷的患者。
Seizure. 2012 Jan;21(1):17-20. doi: 10.1016/j.seizure.2011.08.010. Epub 2011 Sep 8.
8
Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.德拉韦特综合征：37例意大利患者的早期临床表现及认知结局
Brain Dev. 2010 Jan;32(1):71-7. doi: 10.1016/j.braindev.2009.09.014. Epub 2009 Oct 24.