Epilepsy in children with trisomy 18
Epilepsy in children with trisomy 18
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18 三体症儿童癫痫
DOI：
10.1002/ajmg.a.35763
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发表时间：
2013
影响因子：
2
通讯作者：
T. Fujii
中科院分区：
文献类型：
--
作者：
T. Kumada;T. Maihara;Y. Higuchi;Yoshinobu Nishida;Y. Taniguchi;T. Fujii
尽管报告的18三体相关癫痫的发病率为25- 50%，但尚未详细描述18三体相关癫痫的特征。我们通过向属于京都多机构儿科神经病学研究小组的儿科神经学家发送问卷，调查了存活超过1年的18三体儿童的癫痫特征。11例18三体患者入组（研究时年龄为15至134个月;中位数为43个月），其中7例（64%）患有癫痫。癫痫发作时的年龄范围为1至42个月（中位数：11个月）。在7例癫痫患者中，2例为局灶性癫痫，4例为全身性癫痫，其中3例为婴儿痉挛，其余1例为未分类类型。癫痫发作病理学包括两例局灶性癫痫患者的复杂部分性癫痫发作。在调查时，3名全身性癫痫儿童仍有每日癫痫发作，而其余4名无癫痫发作。结论：18三体患者癫痫的特点是：半数以上儿童在婴儿期或幼儿期发病;婴儿痉挛可能是常见的癫痫综合征之一;半数儿童癫痫难治，尤其是全身性癫痫。© 2013 Wiley Periodicals，Inc.
Although the reported incidence of epilepsy associated with trisomy 18 is 25–50%, there have been no detailed descriptions of the characteristics of trisomy 18‐related epilepsy. We investigated the characteristics of epilepsy in children with trisomy 18 who remained alive for over 1 year by sending questionnaires to pediatric neurologists belonging to the Kyoto Multi‐institutional Study Group of Pediatric Neurology. Eleven patients with trisomy 18 were enrolled (age at the study, from 15 to 134 months; median, 43 months), of whom seven (64%) had epilepsy. The age at seizure onset ranged from 1 to 42 months (median: 11 months). Among the seven patients with epilepsy, two had focal epilepsy, four had generalized epilepsy including infantile spasms in three, and the remaining one had an unclassified type. Seizure seminology included complex partial seizures in both the patients with focal epilepsy. At the time of the investigation, three children with generalized epilepsy still had daily seizures, while the remaining four were seizure‐free. In conclusion, the characteristics of epilepsy in patients with trisomy 18 were as follows: over half of the children developed epilepsy during infancy or early childhood; infantile spasms might be one of the common epileptic syndromes; the epilepsy was intractable in half of the children, especially in those with generalized epilepsy. © 2013 Wiley Periodicals, Inc.
影响因子：
2
作者：
Kosho, T;Nakamura, T;Fukushima, YL
通讯作者：
Fukushima, YL