NORTHERN EPILEPSY SYNDROME - AN INHERITED CHILDHOOD-ONSET EPILEPSY WITH ASSOCIATED MENTAL DETERIORATION
NORTHERN EPILEPSY SYNDROME - AN INHERITED CHILDHOOD-ONSET EPILEPSY WITH ASSOCIATED MENTAL DETERIORATION
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DOI：
10.1136/jmg.31.3.177
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发表时间：
1994-03-01
影响因子：
4
通讯作者：
LEISTI, J
中科院分区：
文献类型：
--
作者：
HIRVASNIEMI, A;LANG, H;LEISTI, J
本文报告一种新的常染色体隐性遗传性中枢神经系统疾病，包括儿童期癫痫和智力减退。来自芬兰北方的11个家庭的23名患者（11名男性和12名女性）已被确定。已经发现了9个家族的共同祖先。癫痫发作的平均年龄为6.7岁（范围5-10岁），癫痫的特征是全身强直阵挛性癫痫发作频率增加，直至青春期。三分之一的患者在儿童时期也有复杂的部分性癫痫发作。在青年期，癫痫活动开始减少，但没有完全缓解。脑电图显示背景活动逐渐减慢，癫痫样活动相对较少。在四个发作记录的阵发性活动发起局灶性在两个案件。氯硝西泮和丙戊酸钠有一定的抗癫痫作用，氯硝西泮是更有益的。最初正常的智力发育在癫痫发作后两到五年开始恶化，尽管癫痫控制良好，但在成年期继续恶化，导致中年时智力迟钝。这种被称为北方癫痫综合征的疾病的发病机制尚不清楚。使用与进行性肌阵挛癫痫Unverricht-Lundborg型的EPM 1基因连锁的DNA标记进行的连锁分析表明，北方癫痫综合征与EPM 1不是等位基因。
A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One third of the patients also had complex partial seizures during childhood. During young adulthood the epileptic activity began to decrease, but complete remission did not occur. Electroencephalography showed progressive slowing of the background activity with relatively scanty epileptiform activity. Out of four ictal recordings the paroxysmal activity was initiated focally in two cases. Clonazepam and sodium valproate had some antiepileptic effect, clonazepam being the more beneficial of the two. Mental development, which was originally normal, began to deteriorate two to five years after the onset of epilepsy, and the deterioration continued during adulthood in spite of good epilepsy control, leading to mental retardation by middle age. The pathogenesis of the disorder, called the Northern epilepsy syndrome, is unknown. Linkage analysis using DNA markers linked to the EPM1 gene for progressive myoclonus epilepsy of Unverricht-Lundborg type showed that the Northern epilepsy syndrome is not allelic to EPM1.