Familial clustering of epilepsy and behavioral disorders: evidence for a shared genetic basis.
Familial clustering of epilepsy and behavioral disorders: evidence for a shared genetic basis.
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DOI：
10.1111/j.1528-1167.2011.03351.x
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发表时间：
2012-02
期刊：
影响因子：
5.6
通讯作者：
Berg AT
中科院分区：
文献类型：
--
作者：
Hesdorffer DC;Caplan R;Berg AT
研究非诱发性癫痫发作的家族史是否与癫痫先证者的行为障碍有关，从而支持对这些疾病具有共同潜在遗传易感性的假设。我们对康涅狄格癫痫研究中308例儿童期癫痫先证患者进行了分析，这些患者的父母在9年随访期间完成了儿童行为检查表（CBCL），并提供了非诱发性癫痫发作和热性癫痫发作的一级家族史信息。研究了CBCL问题和dsm导向量表的临床界限。非诱发性癫痫发作的一级家族史与行为障碍的关系分别在无并发症和复杂癫痫中进行评估，在热性癫痫发作的一级家族史中进行评估。一项亚分析，考虑了行为障碍在家庭中的遗传趋势，调整了与先证者患有相同疾病的兄弟姐妹。患病率被用来描述这些关联。在无并发症癫痫的先证患者中，无诱发性癫痫发作的一级家族史与总问题和内化障碍的临床截止值显著相关。在内化障碍中，退缩/抑郁的临床截止值以及情感障碍和焦虑障碍的dsm导向量表与非诱发性癫痫发作的家族史显著相关。攻击行为和不良行为的临床界限，以及品行障碍和对立违抗性障碍的dsm导向量表与无故发作的家族史显著相关。对患有相同疾病的兄弟姐妹进行调整，发现无诱发性癫痫的一级家族史与先证无并发症癫痫患者的总体问题和攻击行为之间存在显著关联；内化障碍、退缩/抑郁和焦虑障碍的结果略有显著。无诱发性癫痫家族史与复杂癫痫先证者的行为问题之间的关系。在未合并癫痫或合并癫痫的先证者中，一级热性癫痫家族史与行为问题无关。无并发症癫痫的先证者和无诱发性癫痫的一级家族史的行为障碍发生率增加表明这些疾病具有家族聚集性。这支持了一种观点，即行为障碍可能是癫痫或与其密切相关的潜在病理生理的另一种表现。
To examine whether family history of unprovoked seizures is associated with behavioral disorders in epilepsy probands, thereby supporting the hypothesis of shared underlying genetic susceptibility to these disorders. We conducted an analysis of the 308 probands with childhood onset epilepsy from the Connecticut Study of Epilepsy with information on first degree family history of unprovoked seizures and of febrile seizures whose parents completed the Child Behavior Checklist (CBCL) at the 9-year follow-up. Clinical cut-offs for CBCL problem and DSM-Oriented scales were examined. The association between first degree family history of unprovoked seizure and behavioral disorders was assessed separately in uncomplicated and complicated epilepsy and separately for first degree family history of febrile seizures. A subanalysis, accounting for the tendency for behavioral disorders to run in families, adjusted for siblings with the same disorder as the proband. Prevalence ratios were used to describe the associations. In probands with uncomplicated epilepsy, first degree family history of unprovoked seizure was significantly associated with clinical cut-offs for Total Problems and Internalizing Disorders. Among Internalizing Disorders, clinical cut-offs for Withdrawn/Depressed, and DSM-Oriented scales for Affective Disorder and Anxiety Disorder were significantly associated with family history of unprovoked seizures. Clinical cut-offs for Aggressive Behavior and Delinquent Behavior, and DSM-Oriented scales for Conduct Disorder and Oppositional Defiant Disorder were significantly associated with family history of unprovoked seizure. Adjustment for siblings with the same disorder revealed significant associations for the relationship between first degree family history of unprovoked seizure and Total Problems and Agressive Behavior in probands with uncomplicated epilepsy; marginally significant results were seen for Internalizing Disorder, Withdrawn/Depressed and Anxiety Disorder. There was no association between family history of unprovoked seizure and behavioral problems in probands with complicated epilepsy. First degree family history of febrile seizure was not associated with behavioral problems in probands with uncomplicated or in those with complicated epilepsy. Increased occurrence of behavioral disorders in probands with uncomplicated epilepsy and first degree family history of unprovoked seizure suggests familial clustering of these disorders. This supports the idea that behavioral disorders may be another manifestation of the underlying pathophysiology involved in epilepsy or closely related to it.
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影响因子：
11.2
作者：
Hesdorffer, DC;Hauser, WA;Kjartansson, O
通讯作者：
Kjartansson, O
影响因子：
2.6
作者：
Guarnieri, Ricardo;Walz, Roger;Sakamoto, Americo C.
通讯作者：
Sakamoto, Americo C.
影响因子：
9.9
作者：
Kanner, A. M.;Byrne, R.;Frey, M.
通讯作者：
Frey, M.
阵发性运动引起的运动障碍和癫痫症是由于SLC2A1中的突变引起的，编码了葡萄糖转运蛋白Glut1。
影响因子：
14.5
作者：
Suls, Arvid;Dedeken, Peter;Goffin, Karolien;Van Esch, Hilde;Dupont, Patrick;Cassiman, David;Kempfle, Judith;Wuttke, Thomas V.;Weber, Yvonne;Lerche, Holger;Afawi, Zaid;Vandenberghe, Wim;Korczyn, Amos D.;Berkovic, Samuel F.;Ekstein, Dana;Kivity, Sara;Ryvlin, Philippe;Claes, Lieve R. F.;Deprez, Liesbet;Maljevic, Snezana;Vargas, Alberto;Van Dyck, Tine;Goossens, Dirk;Del-Favero, Jurgen;Van Laere, Koen;De Jonghe, Peter;Paesschen, WimVan
通讯作者：
Paesschen, WimVan
影响因子：
5.6
作者：
Berg, Anne T.;Berkovic, Samuel F.;Scheffer, Ingrid E.
通讯作者：
Scheffer, Ingrid E.