Autosomal dominant nocturnal frontal lobe epilepsy

A genetic form of epilepsy affecting the frontal lobe

Autosomal dominant nocturnal frontal lobe epilepsy
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Synonyms	ADNFLE, Sleep-related hypermotor epilepsy (SHE)
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Field	Neurology, Epileptology, Medical genetics
Symptoms	Brief motor seizures during sleep, vocalizations, dystonic or hyperkinetic movements, sudden arousals
Complications	Sleep disruption, cognitive impairment, misdiagnosis as parasomnia
Onset	Usually childhood or adolescence
Duration	Chronic
Types	Familial (genetic) and sporadic forms
Causes	Mutations in genes such as CHRNA4, CHRNB2, CHRNA2
Risks	Family history of epilepsy, autosomal dominant inheritance
Diagnosis	Clinical history, EEG (often normal), genetic testing
Differential diagnosis	Night terrors, parasomnias, frontal lobe epilepsy, psychogenic non-epileptic seizures
Prevention	None known; genetic counseling may help at-risk families
Treatment	Antiepileptic drugs (e.g., carbamazepine, oxcarbazepine)
Medication	Carbamazepine, oxcarbazepine, and other anticonvulsants
Prognosis	Often good with treatment, though some patients may have drug-resistant seizures
Frequency	Rare
Deaths	Rare; not typically fatal but can impact quality of life

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare genetic disorder characterized by seizures that predominantly occur during sleep. This condition is a form of epilepsy that affects the frontal lobe of the brain, which is responsible for various functions including movement, decision-making, and problem-solving.

Presentation

ADNFLE is marked by seizures that typically occur during the night, often shortly after falling asleep or just before waking. These seizures can manifest as sudden arousals from sleep, often accompanied by complex motor behaviors such as thrashing, kicking, or bicycling movements. Patients may also experience vocalizations or screaming during these episodes. The seizures are usually brief, lasting less than a minute, but can occur multiple times in a single night.

Genetics

ADNFLE is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. Several genes have been associated with ADNFLE, including mutations in the CHRNA4, CHRNB2, and CHRNB4 genes, which encode subunits of the nicotinic acetylcholine receptor. These mutations can lead to altered receptor function, affecting neuronal excitability and leading to seizures.

Diagnosis

The diagnosis of ADNFLE is based on clinical evaluation, family history, and electroencephalogram (EEG) findings. The EEG may show interictal epileptiform discharges, particularly during sleep. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Management

Management of ADNFLE involves the use of antiepileptic drugs (AEDs) to control seizures. Commonly used AEDs include carbamazepine, oxcarbazepine, and lamotrigine. In some cases, lifestyle modifications such as maintaining a regular sleep schedule and avoiding sleep deprivation can help reduce seizure frequency.

Prognosis

The prognosis for individuals with ADNFLE varies. While some patients achieve good seizure control with medication, others may continue to experience frequent seizures. The condition does not typically affect intelligence or cognitive function, but the impact on sleep can lead to daytime fatigue and sleepiness.

Related pages

• Epilepsy
• Frontal lobe
• Genetic disorder
• Seizure