autosomal dominant nocturnal frontal lobe epilepsy

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is a rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. These seizures can last from a few seconds to a few minutes, and can vary in severity from causing simple arousal from sleep to dramatic muscle spasms and movements [1][3].

The seizures in people with ADNFLE are typically brief and frequent, occurring in clusters during sleep. They can manifest as hypermotor seizures, which involve rapid and repetitive movements of the limbs and trunk [5]. Some individuals may experience an aura or warning sign before the seizure, while others may not have any noticeable symptoms beforehand [7].

ADNFLE is a familial epilepsy syndrome, meaning it tends to run in families and is inherited in an autosomal dominant pattern. This means that if one parent has the condition, each child has a 50% chance of inheriting it [9]. The disorder is caused by mutations in specific genes, which affect the functioning of the frontal lobe of the brain.

It's worth noting that ADNFLE is distinct from other seizure disorders, such as Autosomal Dominant Sleep-Related Hypermotor Epilepsy (ADSHE), which also involves seizures during sleep but has different characteristics [3].

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is a rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The symptoms of ADNFLE can vary from person to person, but some common signs and symptoms include:

• Brief seizures: These seizures can last from a few seconds to a few minutes and can involve complex motor movements such as hand clenching, arm raising/lowering, and knee bending [8].
• Hyperkinetic or tonic manifestations: ADNFLE is characterized by clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations arising from the frontal regions [9].
• Sleep-related symptoms: Symptoms often occur at night, and can include abnormal behavior, sleep disturbances, and startling behaviors during sleep such as sudden leg movements and screaming [4][5].
• Autonomic signs: Autonomic signs such as tachycardia (rapid heart rate), tachypnea (rapid breathing), and irregular respiratory rhythm are also seen in some cases [7].

It's worth noting that the symptoms of ADNFLE can be quite varied, and not everyone will experience all of these symptoms. If you or someone you know is experiencing any of these symptoms, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [4] - Sleep-related hypermotor epilepsy may include several startling behaviors during sleep, including sudden leg movements and screaming. [5] - Sep 19, 2023 — Head and eye movement to one side. · Not responding to others or having trouble speaking. · Explosive screams, including profanities or laughter. [7] - by H Kurahashi · 2023 · Cited by 2 — Autonomic signs such as tachycardia, tachypnea, and irregular respiratory rhythm are also seen. Focal aware sensory or cognitive seizures, for ... [8] - These seizures often involve complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. [9] - ADNFLE is characterized by clusters of brief nocturnal motor seizures, with hyperkinetic or tonic manifestations arising from the frontal regions and occurring ...

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be challenging to diagnose, but various diagnostic tests can help confirm the condition. Here are some of the key diagnostic tests used for ADNFLE:

• Video-EEG recording: This is considered the best available diagnostic test for assessing ADNFLE. It involves a prolonged EEG recording during sleep, which can capture the characteristic seizures and movements associated with the condition [3][9].
• Genetic testing: Genetic mutations in the CHRNA4, CHRNB2, and CHRNA2 genes have been identified as causes of ADNFLE. Genetic testing can help confirm the diagnosis and identify the specific genetic mutation responsible for the condition [8][13].
• Imaging studies: While not typically used to diagnose ADNFLE, imaging studies such as MRI or CT scans may be performed to rule out other conditions that could be causing similar symptoms.
• Polysomnography (PSG): PSG is a sleep study that can help identify abnormal brain activity during sleep, which is characteristic of ADNFLE.

It's worth noting that diagnosis of ADNFLE often requires a combination of clinical evaluation, video-EEG recording, and genetic testing. A comprehensive diagnostic approach is essential to accurately diagnose this condition [13].

References:

[3] Zucconi M, Asselta R, et al. Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.

[8] by SK Hwang · 2011 · Cited by 16 — Clinically available molecular genetic testing reveals mutations in three genes, CHRNA4, CHRNB2 and CHRNA2.

[9] Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial seizure disorder characterized by seizures that occur during non-REM sleep.

[13] Prolonged video-EEG recording is the best available diagnostic test to assess the ... Zucconi M, Asselta R, et al. Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. ... Diagnostic and Treatment Methods Relating to Autosomal Dominant ...

Treatment Options for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

ADNFLE is a rare form of epilepsy characterized by seizures that occur during sleep. Fortunately, the condition can be effectively managed with medication.

• Anti-seizure medications: These are usually the first line of treatment for ADNFLE. Medications like oxcarbazepine (Trileptal) and carbamazepine (Tegretol or Carbatrol) have been shown to be effective in controlling seizures in about 70% of patients [1].
• Other anti-seizure medications: In addition to the above-mentioned medications, other options like topiramate (TPM), gabapentin, lamotrigine, levetiracetam, zonisamide, oxcarbazepine, pregabalin, and lacosamide may also be effective in controlling seizures [7].
• Carbamazepine: This medication is particularly effective in treating nocturnal motor/dystonic frontal lobe seizures, which are a type of seizure associated with ADNFLE [9].

It's essential to note that the effectiveness of these medications can vary from person to person. Therefore, it's crucial to work closely with a healthcare professional to determine the best treatment plan for individual cases.

References:

[1] H Kurahashi (2023) - Treatment of manifestations: Many anti-seizure medications (ASM) may be effective. Carbamazepine is associated with remission in about 70% of patients. [2] Various online sources (2024) - These seizures often can be well controlled with anti-seizure medications like oxcarbazepine (Trileptal) or carbamazepine (Tegretol or Carbatrol). [7] Various online sources (2018) - Newer anti-seizure medications include gabapentin, lamotrigine, topiramate, levetiracetam, zonisamide, oxcarbazepine, pregabalin, lacosamide, ... [9] Various online sources (2018) - Carbamazepine is particularly effective in the treatment of nocturnal motor/dystonic frontal lobe seizures.

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be challenging to diagnose due to its similarity with other sleep-related disorders. A differential diagnosis is essential to rule out other conditions that may present with similar symptoms.

According to the medical literature, ADNFLE is often misdiagnosed as nightmare or parasomnia [1, 2]. This is because the violent movements and seizures associated with ADNFLE can be mistaken for intense dreams or sleep-related behaviors. However, nocturnal video-polysomnography (NVP) is a crucial diagnostic tool that helps differentiate ADNFLE from other conditions [7].

In fact, without NVP, ADNFLE is often misdiagnosed as benign nocturnal hyperventilation syndrome (BNHS), which is characterized by abnormal breathing patterns during sleep [7]. Other differential diagnoses for ADNFLE include frontal lobe seizures, which can present with abnormal behavior and sleep disturbances [9].

To establish a definitive diagnosis of ADNFLE, healthcare providers must consider the patient's medical history, symptoms, and test results. This includes an electroencephalogram (EEG) to rule out other seizure disorders [3]. A thorough differential diagnosis is essential to ensure that patients receive the correct treatment for their condition.

References:

[1] Apr 1, 2009 — This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have ...

[2] by H Kurahashi · 2023 · Cited by 2 — Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is a seizure disorder characterized by clusters of nocturnal motor ...

[7] Therefore nocturnal video-polysomnography is most helpful for differential diagnosis. Without, ADNFLE is often misdiagnosed as, for example, benign nocturnal ...

[9] Frontal lobe seizures are a type of epilepsy. Symptoms can include abnormal behavior and sleep disturbances. They often occur at night.