Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal ... Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (600513).
Aridon et al. (2006) reported a Sardinian family in which 10 members had a sleep-related epilepsy inherited in an autosomal dominant pattern. Mean age at onset was 10 years (range 4 to 29). The phenotype was characterized by ... Aridon et al. (2006) reported a Sardinian family in which 10 members had a sleep-related epilepsy inherited in an autosomal dominant pattern. Mean age at onset was 10 years (range 4 to 29). The phenotype was characterized by episodes of sudden awakening, vocalization or grunting, fearful expression, fear sensation, tongue movements, and nocturnal wandering, suggesting frontolimbic involvement. Complex motor behaviors and nocturnal wanderings were more frequent in childhood, and both frequency and severity of the episodes tended to decrease with age. EEG of 4 affected family members showed frontal lobe involvement. The attacks had been interpreted in some as nightmares and sleep walking.
In all 10 affected members of a Sardinian family with nocturnal frontal lobe epilepsy, Aridon et al. (2006) identified a heterozygous mutation in the CHRNA2 gene (118502.0001). One unaffected family member carried the mutation, indicating incomplete penetrance.