Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/96266
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Type: Journal article
Title: Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Author: Heron, S.
Smith, K.
Bahlo, M.
Nobili, L.
Kahana, E.
Licchetta, L.
Oliver, K.
Mazarib, A.
Afawi, Z.
Korczyn, A.
Plazzi, G.
Petrou, S.
Berkovic, S.
Scheffer, I.
Dibbens, L.
Citation: Nature Genetics, 2012; 44(11):1188-1190
Publisher: Nature Publishing Group
Issue Date: 2012
ISSN: 1061-4036
1546-1718
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
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.
Keywords: Epilepsy, Frontal Lobe
Rights: © 2012 Nature America, Inc. All rights reserved.
RMID: 0030031830
DOI: 10.1038/ng.2440
Grant ID: http://purl.org/au-research/grants/arc/FT100100764
Appears in Collections:Medicine publications

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