An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior
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- 作者：Christopher D. Makinsona ; Karoni Duttb ; Frank Linc ; Ligia A. Papalea ; Anupama Shankara ; Arthur J. Barelab ; Robert Liud ; Alan L. Goldinb ; agoldin@uci.edu" class="auth_mail" title="E-mail the corresponding author ; Andrew Escayga ; aescayg@emory.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：Nav1.6 ; Nav1.1 ; Audiogenic seizure ; Voltage sensor ; Sodium channel ; GEFS ; + ; ; Dravet syndrome ; Interneuron
- 刊名：Experimental Neurology
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：275
- 期：part_P1
- 页码：46-58
- 全文大小：1462 K
文摘
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The R1627H mutation provides seizure resistance without causing absence epilepsy.
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Scn8a-dependent seizure phenotypes are gene-dose dependent.
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The R1627H mutation alters excitatory and inhibitory neuronal excitability in the hippocampus.
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The Scn8a-R1627H mutation increases susceptibility to audiogenic seizures.