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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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1
Early and effective treatment of KCNQ2 encephalopathy.
Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16.
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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.
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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
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.
Pediatr Neurol. 2012 Nov;47(5):317-23. doi: 10.1016/j.pediatrneurol.2012.06.002.

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