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部分性癫痫的遗传学:综述

Genetics of the partial epilepsies: a review.

作者信息

Ottman R

机构信息

Gertrude H. Sergievsky Center, Columbia University, New York, New York 10032.

出版信息

Epilepsia. 1989 Jan-Feb;30(1):107-11. doi: 10.1111/j.1528-1157.1989.tb05290.x.

DOI:10.1111/j.1528-1157.1989.tb05290.x
PMID:2492220
Abstract

The research literature is consistent in reporting somewhat less familial aggregation in partial than in generalized epilepsy. However, relatives of patients with partial seizures do appear to have higher seizure risks than relatives of controls, suggesting that genetic factors are important in at least some partial epilepsies. Complex partial epilepsy appears to be only slightly less familial than other types of epilepsy. Relatives of patients with focal EEG abnormalities generally have been found to have lower risk of both EEG abnormalities and epilepsy than relatives of patients with generalized abnormalities. For focal temporocentral abnormalities, however, there is evidence of an important influence of genetic factors.

摘要

研究文献一致报道,部分性癫痫的家族聚集性略低于全身性癫痫。然而,部分性发作患者的亲属癫痫发作风险似乎确实高于对照组亲属,这表明遗传因素在至少某些部分性癫痫中很重要。复杂部分性癫痫的家族聚集性似乎仅略低于其他类型的癫痫。一般发现,局灶性脑电图异常患者的亲属出现脑电图异常和癫痫的风险低于全身性异常患者的亲属。然而,对于颞中央局灶性异常,有证据表明遗传因素有重要影响。

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1
Genetics of the partial epilepsies: a review.部分性癫痫的遗传学:综述
Epilepsia. 1989 Jan-Feb;30(1):107-11. doi: 10.1111/j.1528-1157.1989.tb05290.x.
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Seizure risk in offspring of parents with generalized versus partial epilepsy.父母患有全身性癫痫与部分性癫痫的后代的癫痫发作风险。
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[Genealogic studies in genuine partial epilepsy].[真性部分性癫痫的系谱研究]
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Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.伴有中央周围棘波的部分性癫痫:一种新的家族性癫痫综合征,有证据表明与4号染色体p15区域连锁。
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Idiopathic generalized epilepsies imitating focal epilepsies.模仿局灶性癫痫的特发性全身性癫痫
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Familial temporal lobe epilepsy: a clinically heterogeneous syndrome.家族性颞叶癫痫:一种临床异质性综合征。
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Hereditary factors in partial epilepsy.部分性癫痫的遗传因素。
Epilepsia. 1969 Mar;10(1):23-31. doi: 10.1111/j.1528-1157.1969.tb03825.x.

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Neuropsychiatr Dis Treat. 2020 Dec 14;16:3071-3079. doi: 10.2147/NDT.S258074. eCollection 2020.
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Apolipoprotein E ε4 Allele was Associated With Nonlesional Mesial Temporal Lobe Epilepsy in Han Chinese Population.载脂蛋白Eε4等位基因与中国汉族人群非病灶性内侧颞叶癫痫相关。
Medicine (Baltimore). 2016 Mar;95(9):e2894. doi: 10.1097/MD.0000000000002894.
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RBFOX1 and RBFOX3 mutations in rolandic epilepsy.RBFox1 和 RBFox3 突变与中央颞区棘波的儿童良性癫痫相关。
PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.
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Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.内侧颞叶癫痫患者皮质下容积特征的遗传度。
PLoS One. 2013 Apr 23;8(4):e61880. doi: 10.1371/journal.pone.0061880. Print 2013.
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Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.天然存在的羧肽酶 A6 突变:对酶功能的影响及其与癫痫的关联。
J Biol Chem. 2012 Dec 14;287(51):42900-9. doi: 10.1074/jbc.M112.414094. Epub 2012 Oct 26.
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Epilepsy Res Treat. 2012;2012:863702. doi: 10.1155/2012/863702. Epub 2012 Feb 19.
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Natural history of temporal lobe epilepsy: antecedents and progression.颞叶癫痫的自然病史:先兆与进展。
Epilepsy Res Treat. 2012;2012:195073. doi: 10.1155/2012/195073. Epub 2012 Mar 26.
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Recruitment for genetic studies of epilepsy.癫痫遗传学研究的招募。
Epilepsy Res. 2012 Aug;101(1-2):122-8. doi: 10.1016/j.eplepsyres.2012.03.011. Epub 2012 Apr 2.
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A systems level, functional genomics analysis of chronic epilepsy.慢性癫痫的系统水平功能基因组学分析。
PLoS One. 2011;6(6):e20763. doi: 10.1371/journal.pone.0020763. Epub 2011 Jun 14.
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Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families.罗兰多癫痫家族中中央颞区尖波的常染色体显性遗传。
Epilepsia. 2007 Dec;48(12):2266-72. doi: 10.1111/j.1528-1167.2007.01221.x. Epub 2007 Jul 28.