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

SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana… - Nature …, 2012 - nature.com
SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, A Mazarib, Z Afawi
Nature genetics, 2012nature.com
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 …
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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