Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
- Author(s)
- Heron, SE; Smith, KR; Bahlo, M; Nobili, L; Kahana, E; Licchetta, L; Oliver, KL; Mazarib, A; Afawi, Z; Korczyn, A; Plazzi, G; Petrou, S; Berkovic, SF; Scheffer, IE; Dibbens, LM;
- Details
- Publication Year 2012-11,Volume 44,Issue #11,Page 1188-1190
- Journal Title
- NATURE GENETICS
- Publication Type
- Journal Article
- Abstract
- 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.
- Publisher
- NATURE PUBLISHING GROUP
- Research Division(s)
- Bioinformatics
- Publisher's Version
- https://doi.org/10.1038/ng.2440
- Terms of Use/Rights Notice
- © 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
Creation Date: 2012-11-01 12:00:00