Chapter 34 - Genetics of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Summary

Nocturnal frontal lobe epilepsy (NFLE) displays a strong familial trait for parasomnias. NFLE is often misdiagnosed as an arousal disorder, especially in children, or, commonly, as various parasomnias and psychiatric disorders, including non-rapid eye movement (NREM) arousal disorders and conversion disorders. NFLE patients show a strong positive family history for epilepsy, up to one-fourth of patients in a big series had an affected relative. In summary, autosomal dominant NFLE (ADNFLE) is a genetic heterogeneous epileptic syndrome that can be incidental to different mutations in different genes. Given the high intra-familial variability and the overlapping features of the clinical manifestations, ADNFLE patients do not seem to show a clear distinction from sporadic NFLE cases, except for some specific mutations. The mechanisms whereby mutations cause ADNFLE are still poorly understood, and new insights in the pathophysiology of the disease are needed.