SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.
Epilepsia. 2010 Feb;51(2):293-6. doi: 10.1111/j.1528-1167.2009.02317.x. Epub 2009 Oct 27.
We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and neonatal seizures in the presence of a controlled cardiac rhythm. To find a cause for this unusual combination of phenotypes, we tested the patient for mutations in seven ion channel genes associated with either LQTS or benign familial neonatal seizures (BFNS). Comparative genome hybridization (CGH) was done to exclude the possibility of a contiguous gene syndrome. No mutations were found in the genes (KCNQ2, KCNQ3) associated with BFNS, and CGH was negative. A previously described mutation and a known rare variant were found in the LQTS-associated genes SCN5A and KCNE2. Both are expressed in the brain, and although mutations have not been associated with epilepsy, we propose a pathophysiologic mechanism by which the combination of molecular changes may cause seizures.
我们鉴定了一名新生儿长 QT 综合征（LQTS）伴新生儿惊厥且心律得到控制的患者。为了寻找这种不同寻常表型组合的病因，我们针对与 LQTS 或良性家族性新生儿惊厥（BFNS）相关的七个离子通道基因突变对患者进行了检测。比较基因组杂交（CGH）被用来排除连续基因综合征的可能性。与 BFNS 相关的基因（KCNQ2、KCNQ3）中未发现突变，CGH 结果为阴性。在与 LQTS 相关的基因 SCN5A 和 KCNE2 中发现了一个先前描述的突变和一个已知的罕见变异。这两个基因都在大脑中表达，尽管突变与癫痫无关，但我们提出了一个病理生理机制，即分子变化的组合可能导致癫痫发作。
