From OMIMAutosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al., 1994, 1995). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997).
Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy
Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (603204), which maps to chromosome 15q24; ENFL3 (605375), caused by mutation in the CHRNB2 gene (118507) on chromosome 1q21; ENFL4 (610353), caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21; and ENFL5 (615005), caused by mutation in the KCNT1 gene (608167) on chromosome 9q34.
Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; 604364), caused by mutation in the DEPDC5 gene (614191) on chromosome 22q12.
http://www.omim.org/entry/600513 From MedlinePlus GeneticsMost people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.
In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers.
The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks.
The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy