Response to Carbamazepine in KCNQ2 Related Early Infantile Epileptic Encephalopathy.
作者信息
Sharawat Indar Kumar, Kasinathan Ananthanarayanan, Sahu Jitendra Kumar, Sankhyan Naveen
机构信息
Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
出版信息
Indian J Pediatr. 2019 Mar;86(3):301-302. doi: 10.1007/s12098-018-2796-8. Epub 2018 Dec 5.
PMID:30515704
Abstract
摘要
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本文引用的文献
1
Early and effective treatment of KCNQ2 encephalopathy.
Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16.
2
The variable phenotypes of KCNQ-related epilepsy.
Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22.
3
Pharmacotherapy of focal epilepsy in children: a systematic review of approved agents.
CNS Drugs. 2013 Apr;27(4):273-86. doi: 10.1007/s40263-013-0048-z.
4
A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon.
J Neurosci. 2006 Mar 8;26(10):2599-613. doi: 10.1523/JNEUROSCI.4314-05.2006.
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