期刊
NATURE GENETICS
卷 44, 期 11, 页码 1188-1190出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2440
关键词
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资金
- National Health and Medical Research Council of Australia [628952, 490037, 1016715, 1005050, 466671, 1006110, 1032603]
- Victorian State government
- Pratt Foundation
- Australian Research Council [FT100100764]
- Australian Government National Health and Medical Research Council
- Australian Research Council [FT100100764] Funding Source: Australian Research Council
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.
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