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EnglishWe 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.
| Titolo: | Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy | |
| Autore/i: | Heron S. E.; Smith K. R.; Bahlo M.; Nobili L.; Kahana E.; LICCHETTA, LAURA; Oliver K. L.; Mazarib A.; Afawi Z.; Korczyn A.; PLAZZI, GIUSEPPE; Petrou S.; Berkovic S. F.; Scheffer I. E.; Dibbens L. M. | |
| Autore/i Unibo: | ||
| Anno: | 2012 | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/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. | |
| Data prodotto definitivo in UGOV: | 2013-06-10 09:16:19 | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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