TY - T1的小说易感性位点在6号染色体q16.3 - 22.31与gef家庭+ JF -神经学乔-神经病学SP - 1264 LP - 1272 - 10.1212 / WNL。首页0 b013e3181bd10d3六世- 73 - 16 AU - a Poduri AU - y王盟- d·戈登AU - s Barral-Rodriguez AU - c . Barker-Cummings AU - a .乌盟诉Chitsazzadeh AU - r . s .希尔盟n Risch盟——w·a·豪泽盟——t·a·佩德利说非盟- c·a·沃尔什AU - r . Ottman Y1 - 2009/10/20 UR - //www.ez-admanager.com/content/73/16/1264.abstract N2 -背景:遗传与发热性癫痫发作首页+ (gef +)是一个家族性癫痫综合征,极其变量表达能力。5基因变异提高对gef +被发现,但他们只占一小部分的家庭。方法:我们确定了4-generation家庭包含15个影响个体的表型在gef +光谱,包括发热性癫痫,发热性癫痫,癫痫,严重的癫痫与发育迟缓。我们进行了全基因组关联分析利用微卫星标记然后饱和的潜在联系地区被屏幕上有标记。我们评估的证据联系使用基于模型的和模范自由(链接(PPL)的后验概率)分析。我们16候选基因测序筛查拷贝数最小的基因异常区域。结果:所有15个影响主题和1专运营商共享6号染色体标记的单体型q16.3 - 22.31, 18.1在标记D6S962和D6S287 -megabase区域。本地区最大的多点lod得分为4.68。PPL分析显示链接的概率是89%。 Sequencing of 16 candidate genes did not reveal a causative mutation. No deletions or duplications were identified. Conclusions: We report a novel susceptibility locus for genetic epilepsy with febrile seizures plus at 6q16.3-22.31, in which there are no known genes associated with ion channels or neurotransmitter receptors. The identification of the responsible gene in this region is likely to lead to the discovery of novel mechanisms of febrile seizures and epilepsy. CIDR=Center for Inherited Disease Research; EFSCU=Epilepsy Family Study of Columbia University; FS=febrile seizures; FS+=febrile seizures plus; GBP=gabapentin; GEFS+=genetic epilepsy with febrile seizures plus; GTC=generalized tonic-clonic seizure without aura or lateralizing postictal symptoms or signs; Mb=megabase; MGR=minimal genetic region; PPL=posterior probability of linkage; SMEB=borderline severe myoclonic epilepsy of infancy; STRP=short tandem repeat polymorphism; UCSC=University of California Santa Cruz. ER -