Neubauer B A, Fiedler B, Himmelein B, Kämpfer F, Lässker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U
Department of Neuropediatrics, University of Kiel, Germany.
Neurology. 1998 Dec;51(6):1608-12. doi: 10.1212/wnl.51.6.1608.
To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS).
BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (AChR) have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy, which, like BECTS, is an idiopathic partial epilepsy.
A DNA linkage study was conducted screening all chromosomal regions known to harbor neuronal nicotinic AChR subunit genes. Twenty-two nuclear families with BECTS were analyzed.
In an "affected-only" study, best p values and lod scores were reached between D15S165 and D15S1010 on chromosome 15q14. In multipoint nonparametric linkage analysis a nominal p value of 0.000494 was calculated by GENEHUNTER. Best parametric results were obtained under an autosomal recessive model with heterogeneity (multipoint lod score 3.56 with 70% of families linked to the locus). These markers are localized in direct vicinity to the alpha 7 subunit gene of the AChR.
We found evidence for linkage of BECTS to a region on chromosome 15q14. Either the alpha 7 AChR subunit gene or a closely linked gene are implicated in pedigrees with BECTS. The disorder is genetically heterogeneous. Surprisingly, the same chromosomal area has been reported to be linked to the phenotype in families with an auditory neurophysiologic deficit as well as in families with juvenile myoclonic epilepsy, another idiopathic but generalized epilepsy syndrome.
定位一个与儿童良性中央颞区棘波癫痫（BECTS）相关的易感基因。
BECTS，即罗兰多癫痫，是儿童期最常见的特发性癫痫综合征。在常染色体显性遗传性夜间额叶癫痫中已证实神经元烟碱型乙酰胆碱受体（AChR）α4亚基存在功能相关缺陷，该癫痫与BECTS一样，是一种特发性局灶性癫痫。
进行了一项DNA连锁研究，筛查所有已知含有神经元烟碱型AChR亚基基因的染色体区域。分析了22个患有BECTS的核心家庭。
在一项“仅患者”研究中，15号染色体15q14上的D15S165和D15S1010之间达到了最佳p值和对数优势分数。在多点非参数连锁分析中，GENEHUNTER计算出的名义p值为0.000494。在常染色体隐性遗传模型及异质性条件下获得了最佳参数结果（多点对数优势分数为3.56，70%的家庭与该位点连锁）。这些标记物位于AChRα7亚基基因的紧邻区域。
我们发现了BECTS与15号染色体15q14区域连锁的证据。在患有BECTS的家系中，α7 AChR亚基基因或一个紧密连锁的基因可能与之相关。该疾病具有遗传异质性。令人惊讶的是，据报道，同一个染色体区域在患有听觉神经生理缺陷的家系以及患有青少年肌阵挛癫痫（另一种特发性全身性癫痫综合征）的家系中也与该表型相关。
