2. Academic Validation
  3. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

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

  • Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440.
Sarah E Heron 1,  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
Affiliations

Affiliation

  • 1 Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
PMID: 23086396 DOI: 10.1038/ng.2440
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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