Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.
作者信息
Chen Dillon Y, Chowdhury Shimul, Farnaes Lauge, Friedman Jennifer R, Honold Jose, Dimmock David P, Gold On Behalf Of The Rcigm Investigators Jeffrey J
机构信息
Department of Neuroscience at the University of California, San Diego, San Diego, California; Division of Neurology, Rady Children's Hospital San Diego, San Diego, California.
Rady Children's Institute of Genomic Medicine, San Diego, California.
出版信息
Pediatr Neurol. 2018 Sep;86:69-70. doi: 10.1016/j.pediatrneurol.2018.06.002. Epub 2018 Jul 10.
Abstract
摘要
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本文引用的文献
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Early and effective treatment of KCNQ2 encephalopathy.KCNQ2 脑病的早期有效治疗。
Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16.
2
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
3
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.扩展 KCNQ2 脑病谱：17 例患者的临床和神经影像学特征。
Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.
4
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.新发性 KCNQ2 基因突变患者具有相似的早期特征，但神经功能预后存在差异。
Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.
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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.由 KCNQ2 突变引起的早发性癫痫性脑病的临床谱。
Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26.
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Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.早期癫痫性脑病：大田原综合征和早发性肌阵挛性脑病。
Pediatr Neurol. 2012 Nov;47(5):317-23. doi: 10.1016/j.pediatrneurol.2012.06.002.
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