Capturing the epileptic trait: cortical excitability measures in patients and their unaffected siblings
Capturing the epileptic trait: cortical excitability measures in patients and their unaffected siblings
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DOI：
10.1093/brain/awt047
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发表时间：
2013-04-01
期刊：
影响因子：
14.5
通讯作者：
Cook, Mark J.
中科院分区：
文献类型：
--
作者：
Badawy, Radwa A. B.;Vogrin, Simon J.;Cook, Mark J.
我们使用经颅磁刺激来研究在不同的全身性和局灶性癫痫综合征中观察到的皮质兴奋性变化是否反映在其无症状的兄弟姐妹中，以及这些变化是否取决于临床表型。我们研究了 157 名癫痫患者（95 名全身性癫痫患者和 62 名局灶性癫痫患者）及其无症状的兄弟姐妹（分别为 138 名和 82 名）。测量短（2、5、10 和 15 毫秒）和长（100-300 毫秒）刺激间隔的运动阈值和配对脉冲经颅磁刺激。结果与 12 名对照组及其 20 名兄弟姐妹的结果进行了比较。健康对照受试者与其兄弟姐妹之间的皮质兴奋性没有差异。与对照受试者相比，患者兄弟姐妹的皮质兴奋性较高，无论是全身性（P < 0.05；短和长刺激间隔）还是局灶性（P < 0.05；长刺激间隔）。与癫痫相比，青少年肌阵挛性癫痫患者的运动阈值低于其兄弟姐妹，仅在发病初期处于未用药状态。在所有组（全身组和局部组）中，兄弟姐妹的皮质兴奋性仅在长刺激间隔时较低（250 和 300；P < 0.05）。全身性癫痫和局灶性癫痫患者的无症状兄弟姐妹的皮质兴奋性也较高，情况类似。即使在结构异常（获得性癫痫）患者的兄弟姐妹中，这种紊乱似乎也涉及皮质内抑制回路。这意味着某些遗传因素易患全身性癫痫和局灶性癫痫，并且复杂的遗传/环境相互作用决定了临床表型。
We used transcranial magnetic stimulation to investigate whether the cortical excitability changes observed amongst the different generalized and focal epilepsy syndromes are reflected in their asymptomatic siblings and if these changes depended on the clinical phenotype. We studied 157 patients with epilepsy (95 generalized and 62 focal) and their asymptomatic siblings (138 and 82, respectively). Motor threshold and paired pulse transcranial magnetic stimulation at short (2, 5, 10 and 15 ms) and long (100-300 ms) interstimulus intervals were measured. Results were compared to those of 12 control subjects and 20 of their siblings. There were no differences in cortical excitability between healthy control subjects and their siblings. Compared with control subjects, cortical excitability was higher in siblings of patients whether generalized (P < 0.05; short and long interstimulus intervals) or focal (P < 0.05; long interstimulus intervals). Compared with epilepsy, motor threshold was lower (P < 0.05) in patients with juvenile myoclonic epilepsy compared with their siblings only early at onset in the drug naive state. In all groups (generalized and focal) cortical excitability was lower in siblings only at the long interstimulus intervals (250 and 300; P < 0.05). Cortical excitability is higher in asymptomatic siblings of patients with generalized and focal epilepsy in a similar manner. The disturbance seems to involve intracortical inhibitory circuits even in the siblings of patients with a structural abnormality (acquired epilepsy). This implies there are certain genetic factors that predispose to both generalized and focal epilepsies and a complex genetic/environmental interaction then determines the clinical phenotype.