A de novo mutation in sporadic nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to muta tions in CHRNA4. The commoner presentation of sporadic nocturnal frontal lo be epilepsy has not been associated with genetic defects. A 30-year-old wom an diagnosed as having sporadic nocturnal frontal lobe epilepsy was found t o have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site-s pecific mutation within the second transmembrane domain of CHRNA4 in associ ation with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in Families with different ethnic backgroun ds.