Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/96266
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dc.contributor.authorHeron, S.en
dc.contributor.authorSmith, K.en
dc.contributor.authorBahlo, M.en
dc.contributor.authorNobili, L.en
dc.contributor.authorKahana, E.en
dc.contributor.authorLicchetta, L.en
dc.contributor.authorOliver, K.en
dc.contributor.authorMazarib, A.en
dc.contributor.authorAfawi, Z.en
dc.contributor.authorKorczyn, A.en
dc.contributor.authorPlazzi, G.en
dc.contributor.authorPetrou, S.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorDibbens, L.en
dc.date.issued2012en
dc.identifier.citationNature Genetics, 2012; 44(11):1188-1190en
dc.identifier.issn1061-4036en
dc.identifier.issn1546-1718en
dc.identifier.urihttp://hdl.handle.net/2440/96266-
dc.description.abstractWe 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.en
dc.description.statementofresponsibilitySarah 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 Dibbensen
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.rights© 2012 Nature America, Inc. All rights reserved.en
dc.subjectEpilepsy, Frontal Lobeen
dc.titleMissense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsyen
dc.typeJournal articleen
dc.identifier.rmid0030031830en
dc.identifier.doi10.1038/ng.2440en
dc.relation.granthttp://purl.org/au-research/grants/arc/FT100100764en
dc.identifier.pubid109126-
pubs.library.collectionMedicine publicationsen
pubs.library.teamDS02en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidHeron, S. [0000-0001-8759-6748]en
Appears in Collections:Medicine publications

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