Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Date
2012
Authors
Heron, S.
Smith, K.
Bahlo, M.
Nobili, L.
Kahana, E.
Licchetta, L.
Oliver, K.
Mazarib, A.
Afawi, Z.
Korczyn, A.
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Journal article
Citation
Nature Genetics, 2012; 44(11):1188-1190
Statement of Responsibility
Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens
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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.
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Data source: Supplementary information, http://www.nature.com/ng/journal/v44/n11/full/ng.2440.html#supplementary-information
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© 2012 Nature America, Inc. All rights reserved.