Wakamoto Hiroyuki, Hayashi Masatoshi, Nagao Hideo, Morimoto Takehiko, Kida Kaichi
Department of Pediatrics, Ehime Prefecture Niihama Hospital, 3-1-1 Hongo, Niihama City, Ehime 792-0042, Japan.
Brain Dev. 2004 Apr;26(3):184-9. doi: 10.1016/S0387-7604(03)00124-4.
Although there have been major advances in the understanding of the molecular bases of certain inherited epilepsy syndromes, clinical studies are still needed to verify the possible genetic contributions to common epilepsies. We examined the proportions of positive family histories of epilepsy (within second-degree relatives) and consanguinity (within first-degree relatives) in 311 probands with childhood-onset epilepsy, and found that they had high family history rates of epilepsy (19.3%) and consanguinity (6.1%). A positive family history of epilepsy was found more in probands with generalized epilepsy than in ones with localization-related epilepsy, and more in probands with idiopathic/cryptogenic epilepsy than in ones with symptomatic epilepsy. However, on analysis after the symptomatic epilepsies had been divided into two categories, probands with pre- or perinatal symptomatic generalized epilepsy and ones with postnatal symptomatic localization-related epilepsy showed high positive family history rates, similar to ones with idiopathic/cryptogenic epilepsy. On the other hand, a positive family history of consanguinity was noted more in probands with generalized epilepsy than in ones with localization-related epilepsy, but there was no significant difference between probands with idiopathic/cryptogenic epilepsy and ones with symptomatic epilepsy. These findings suggest that in addition to the hereditary effect on idiopathic/cryptogenic epilepsy, a genetic susceptibility may contribute to the development of pre- or perinatal symptomatic generalized epilepsy, and to that of postnatal symptomatic localization-related epilepsy. Furthermore, a genetic predisposition seems to have an influence through consanguinity on the etiologies of both idiopathic/cryptogenic and symptomatic generalized epilepsies.
尽管在某些遗传性癫痫综合征的分子基础理解方面取得了重大进展，但仍需要临床研究来验证常见癫痫可能的遗传因素。我们调查了311例儿童期起病癫痫患者二级亲属中癫痫家族史阳性比例以及一级亲属中近亲结婚比例，发现他们癫痫家族史阳性率（19.3%）和近亲结婚率（6.1%）较高。癫痫家族史阳性在全身性癫痫患者中比局灶性相关性癫痫患者中更常见，在特发性/隐源性癫痫患者中比症状性癫痫患者中更常见。然而，在将症状性癫痫分为两类后进行分析，产前或围产期症状性全身性癫痫患者和产后症状性局灶性相关性癫痫患者的癫痫家族史阳性率较高，与特发性/隐源性癫痫患者相似。另一方面，近亲结婚家族史阳性在全身性癫痫患者中比局灶性相关性癫痫患者中更常见，但特发性/隐源性癫痫患者和症状性癫痫患者之间没有显著差异。这些发现表明，除了对特发性/隐源性癫痫的遗传影响外，遗传易感性可能促成产前或围产期症状性全身性癫痫以及产后症状性局灶性相关性癫痫的发生。此外，遗传易感性似乎通过近亲结婚对特发性/隐源性癫痫和症状性全身性癫痫的病因都有影响。
