10 Approximately 10–20% of patients have a positive family history and fewer than 5% a negative one. 7, 8, 9 Overall mutations are found in less than 20% of individuals with ADNFLE/NFLE phenotypes, suggesting their genetic heterogeneity. 6 Clinically available molecular genetic testing reveals mutations in three genes encoding the α4, β2 and α2 subunits of the neuronal nicotinic acetylcholine receptor ( CHRNA4, CHRNB2 and CHRNA2, respectively). 5ĪDNFLE is the first human idiopathic epilepsy known to be related to specific gene defects. Onset usually occurs during the first two decades (mean age 10 years), but later onset has also been reported. 1, 2 Seizures-often misdiagnosed as other nocturnal motor activities such as parasomnia or night terror 1, 2, 3, 4-vary from simple arousals to hyperkinetic activity with tonic or dystonic features. Association with a CpG site accounts for independent occurrence of the Ser284Leu mutation.Īutosomal dominant nocturnal frontal lobe epilepsy (ADNFLE MIM 118504) is a familial partial epilepsy syndrome characterised by clusters of brief frontal lobe motor seizures during drowsiness or sleep. The affected nucleotide was highly conserved and associated with a CpG hypermutable site, while other CHRNA4 mutations were not in mutation hot spots. Haplotype analysis in the two previously reported families showed, however, independent occurrence of the Ser284Leu mutation. Japanese and Koreans, because of their geographical closeness and historical interactions, show greater genetic similarities than do the populations of other countries where the mutation is found. Clear evidence for founder effect was not reported among them, including a haplotype study carried out on the Australian and Norwegian families. Mutations in CHRNA4 have been found in families from different countries the Ser280Phe in an Australian, Spanish, Norwegian and Scottish families, and the Ser284Leu in a Japanese, Korean, Polish and Lebanese families. Clinically available molecular genetic testing reveals mutations in three genes, CHRNA4, CHRNB2 and CHRNA2.

Autosomal dominant nocturnal frontal lobe epilepsy is a familial partial epilepsy syndrome and the first human idiopathic epilepsy known to be related to specific gene defects.

Nocturnal epilepsy life expectancy