Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1188-1190
Number of pages3
JournalNature Genetics
Volume44
Issue number11
DOIs
Publication statusPublished - Nov 2012

ASJC Scopus subject areas

  • Genetics

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