Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.
We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on chromosome 9q34.3. Whole-exome sequencing identified a mutation in KCNT1, encoding a sodium-gated potassium channel subunit. KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features. These findings implicate the sodium-gated potassium channel complex in ADNFLE and, more broadly, in the pathogenesis of focal epilepsies.
我们对一个有常染色体显性夜间额叶癫痫（ADNFLE）和智力及精神问题的家族进行了基因组图谱绘制，在 9q34.3 染色体上确定了一个与疾病相关的区域。全外显子组测序鉴定出 KCNT1 中的一个突变，该基因为钠离子门控钾通道亚基。在另外两个家族和一个散发的伴有严重 ADNFLE 和精神特征的病例中也发现了 KCNT1 突变。这些发现表明钠离子门控钾通道复合物与 ADNFLE 有关，更广泛地说，与局灶性癫痫的发病机制有关。
