Mulley John C, Iona Xenia, Hodgson Bree, Heron Sarah E, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne M
Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, Australia.
Neurol Res Int. 2011;2011:917565. doi: 10.1155/2011/917565. Epub 2011 Jul 16.
Sixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found a striking lack of genetic variation in their controls. We found genetic variation in SEZ6 at similar levels at the same DNA sequence positions in our 94 febrile seizure cases as in our 96 unaffected controls. Two of our febrile seizure cases carried rare variants predicted to have damaging consequences. Combined with some of the variants from the Chinese cohort, these data are compatible with a role for SEZ6 as a susceptibility gene for febrile seizures. However, the polygenic determinants underlying most cases of febrile seizures with complex inheritance remain to be determined.
先前有报道称，来自中国队列的60例热性惊厥患者中，惊厥相关（SEZ）6基因的变异与热性惊厥之间存在很强的关联。他们发现其对照组中明显缺乏基因变异。我们在94例热性惊厥病例中发现，SEZ6在相同DNA序列位置的基因变异水平与96例未受影响的对照组相似。我们的2例热性惊厥病例携带了预测会产生有害后果的罕见变异。结合中国队列中的一些变异，这些数据表明SEZ6作为热性惊厥的易感基因发挥了作用。然而，大多数具有复杂遗传的热性惊厥病例的多基因决定因素仍有待确定。
