Stern William M, Sander Josemir W, Rothwell John C, Sisodiya Sanjay M
From the Department of Clinical and Experimental Epilepsy, NIHR University College London Hospitals Biomedical Research Centre (W.M.S., J.W.S., S.M.S.), and Sobell Department of Motor Neuroscience and Movement Disorders (J.C.R.), UCL Institute of Neurology; Epilepsy Society (W.M.S., J.W.S., S.M.S.), Chalfont St Peter, UK; and Stichting Epilepsie Instellingen Nederland (SEIN) (J.W.S.), Heemstede, the Netherlands.
Neurology. 2017 Apr 25;88(17):1659-1665. doi: 10.1212/WNL.0000000000003868. Epub 2017 Mar 29.
Dravet syndrome is a rare neurodevelopmental disorder characterized by seizures and other neurologic problems. mutations account for ∼80% of cases. Animal studies have implicated mutation-related dysregulated cortical inhibitory networks in its pathophysiology. We investigated such networks in people with the condition.
Transcranial magnetic stimulation using single and paired pulse paradigms was applied to people with Dravet syndrome and to 2 control groups to study motor cortex excitability.
Short interval intracortical inhibition (SICI), which measures GABAergic inhibitory network behavior, was undetectable in Dravet syndrome, but detectable in all controls. Other paradigms, including those testing excitatory networks, showed no difference between Dravet and control groups.
There were marked differences in inhibitory networks, detected using SICI paradigms, while other inhibitory and excitatory paradigms yielded normal results. These human data showing reduced GABAergic inhibition in vivo in people with Dravet syndrome support established animal models.
德雷维特综合征是一种罕见的神经发育障碍，其特征为癫痫发作和其他神经问题。突变约占病例的80%。动物研究表明，与突变相关的皮质抑制网络失调在其病理生理学中起作用。我们对患有这种疾病的人群中的此类网络进行了研究。
使用单脉冲和双脉冲范式的经颅磁刺激应用于德雷维特综合征患者和2个对照组，以研究运动皮质兴奋性。
测量GABA能抑制网络行为的短间隔皮质内抑制（SICI）在德雷维特综合征患者中无法检测到，但在所有对照组中均可检测到。其他范式，包括那些测试兴奋性网络的范式，在德雷维特综合征组和对照组之间没有差异。
使用SICI范式检测到抑制网络存在显著差异，而其他抑制和兴奋性范式产生正常结果。这些人体数据表明，德雷维特综合征患者体内GABA能抑制作用降低，支持了已建立的动物模型。
