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.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy / Heron, S. E.; Smith, K. R.; Bahlo, M.; Nobili, L.; Kahana, E.; Licchetta, L.; Oliver, K. L.; Mazarib, A.; Afawi, Z.; Korczyn, A.; Plazzi, G.; Petrou, S.; Berkovic, S. F.; Scheffer, I. E.; Dibbens, L. M.. - In: NATURE GENETICS. - ISSN 1061-4036. - 44:11(2012), pp. 1188-1190. [10.1038/ng.2440]

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

Plazzi G.;
2012

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.
2012
44
11
1188
1190
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy / Heron, S. E.; Smith, K. R.; Bahlo, M.; Nobili, L.; Kahana, E.; Licchetta, L.; Oliver, K. L.; Mazarib, A.; Afawi, Z.; Korczyn, A.; Plazzi, G.; Petrou, S.; Berkovic, S. F.; Scheffer, I. E.; Dibbens, L. M.. - In: NATURE GENETICS. - ISSN 1061-4036. - 44:11(2012), pp. 1188-1190. [10.1038/ng.2440]
Heron, S. E.; Smith, K. R.; Bahlo, M.; Nobili, L.; Kahana, E.; Licchetta, L.; Oliver, K. L.; Mazarib, A.; Afawi, Z.; Korczyn, A.; Plazzi, G.; Petrou, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1205906
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