Details

Autor(en) / Beteiligte

• HERON, Sarah E
• SMITH, Katherine R
• PLAZZI, Giuseppe
• PETROU, Steven
• BERKOVIC, Samuel F
• SCHEFFER, Ingrid E
• DIBBENS, Leanne M
• BAHLO, Melanie
• NOBILI, Lino
• KAHANA, Esther
• LICCHETTA, Laura
• OLIVER, Karen L
• MAZARIB, Aziz
• AFAWI, Zaid
• KORCZYN, Amos

Titel

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

Ist Teil von

• Nature genetics, 2012-11, Vol.44 (11), p.1188-1190

Ort / Verlag

New York, NY: Nature Publishing Group

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.