Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
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DOI：
10.1038/ng.2440
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发表时间：
2012-11-01
期刊：
影响因子：
30.8
通讯作者：
Dibbens, Leanne M.
中科院分区：
文献类型：
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作者：
Heron, Sarah E.;Smith, Katherine R.;Dibbens, Leanne M.
我们对一个患有常染色体显性遗传夜间额叶癫痫（ADNFLE）和智力及精神问题的家族进行了基因组定位，确定了染色体9q34.3上的疾病相关区域。全外显子组测序鉴定了KCNT1的突变，编码钠门控钾通道亚基。KCNT1突变在另外两个家庭和一个散发的情况下，严重的ADNFLE和精神病学特征。这些发现暗示钠门控钾通道复合物在ADNFLE，更广泛地说，在局灶性癫痫的发病机制。
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.