Autosomal dominant nocturnal frontal lobe epilepsy: Difference between revisions
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{{Short description|A genetic form of epilepsy affecting the frontal lobe}} | |||
{{Infobox medical condition (new) | {{Infobox medical condition (new) | ||
| name = Autosomal dominant nocturnal frontal lobe epilepsy | | name = Autosomal dominant nocturnal frontal lobe epilepsy | ||
| image = | | image = | ||
| caption = | | caption = | ||
| pronounce = | |||
| pronounce = | | field = [[Neurology]], [[Epileptology]], [[Medical genetics]] | ||
| field = | | synonyms = ADNFLE, Sleep-related hypermotor epilepsy (SHE) | ||
| synonyms = | | symptoms = Brief motor seizures during sleep, vocalizations, dystonic or hyperkinetic movements, sudden arousals | ||
| symptoms = | | complications = Sleep disruption, cognitive impairment, misdiagnosis as parasomnia | ||
| complications = | | onset = Usually childhood or adolescence | ||
| onset = | | duration = Chronic | ||
| duration = | | types = Familial (genetic) and sporadic forms | ||
| types = | | causes = Mutations in genes such as ''[[CHRNA4]]'', ''[[CHRNB2]]'', ''[[CHRNA2]]'' | ||
| causes = | | risks = Family history of epilepsy, autosomal dominant inheritance | ||
| risks = | | diagnosis = Clinical history, [[EEG]] (often normal), [[genetic testing]] | ||
| diagnosis = | | differential = [[Night terrors]], [[parasomnias]], [[frontal lobe epilepsy]], [[psychogenic non-epileptic seizures]] | ||
| differential = | | prevention = None known; genetic counseling may help at-risk families | ||
| prevention = | | treatment = [[Antiepileptic drugs]] (e.g., [[carbamazepine]], [[oxcarbazepine]]) | ||
| treatment = | | medication = Carbamazepine, oxcarbazepine, and other anticonvulsants | ||
| medication = | | prognosis = Often good with treatment, though some patients may have drug-resistant seizures | ||
| prognosis = | | frequency = Rare | ||
| frequency = | | deaths = Rare; not typically fatal but can impact quality of life | ||
| deaths = | |||
}} | }} | ||
'''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 | 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== | ==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== | ==Prognosis== | ||
The prognosis for individuals with ADNFLE | 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]] | |||
== External links == | == External links == | ||
{{Medical resources | {{Medical resources | ||
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| eMedicineTopic = | | eMedicineTopic = | ||
}} | }} | ||
{{sleep}} | {{sleep}} | ||
{{DEFAULTSORT:Autosomal Dominant Nocturnal Frontal Lobe Epilepsy}} | {{DEFAULTSORT:Autosomal Dominant Nocturnal Frontal Lobe Epilepsy}} | ||
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[[Category:Unsolved problems in neuroscience]] | [[Category:Unsolved problems in neuroscience]] | ||
[[Category:Frontal lobe]] | [[Category:Frontal lobe]] | ||
[[Category:Genetic disorders]] | |||
[[Category:Neurology]] | |||
Latest revision as of 14:53, 24 March 2025
A genetic form of epilepsy affecting the frontal lobe
| Autosomal dominant nocturnal frontal lobe epilepsy | |
|---|---|
| [[File:|250px|alt=|]] | |
| Synonyms | ADNFLE, Sleep-related hypermotor epilepsy (SHE) |
| Pronounce | |
| 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
