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

doi:10.1038/ng.2440

. 2012 Nov;44(11):1188-90.

doi: 10.1038/ng.2440. Epub 2012 Oct 21.

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

Sarah E Heron¹, 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

PMID: 23086396
DOI: 10.1038/ng.2440

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

Sarah E Heron et al. Nat Genet. 2012 Nov.

. 2012 Nov;44(11):1188-90.

doi: 10.1038/ng.2440. Epub 2012 Oct 21.

Authors

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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Genetics: mutations in potassium channel KCNT1-a novel driver of epilepsy pathogenesis.
Kingwell K. Kingwell K. Nat Rev Neurol. 2012 Dec;8(12):658. doi: 10.1038/nrneurol.2012.229. Epub 2012 Nov 13. Nat Rev Neurol. 2012. PMID: 23147853 No abstract available.
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes.
Aminkeng F. Aminkeng F. Clin Genet. 2013 Apr;83(4):319-20. doi: 10.1111/cge.12082. Epub 2013 Jan 24. Clin Genet. 2013. PMID: 23278465 No abstract available.

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[1] J Neurol. 1998 Dec;245(12):809-10 - PubMed

[2] J Neurol. 1998 Dec;245(12):809-10 - PubMed

[3] Prog Neurobiol. 2009 Jan 12;87(1):41-57 - PubMed

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

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

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