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autosomal dominant nocturnal frontal lobe epilepsy 5

ICD-10 Codes

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Description

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare seizure disorder characterized by clusters of motor brief seizures arising in sleep with hyperkinetic or tonic manifestations.

This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also experience seizures during the day, but they are less frequent and typically milder than those occurring at night.

The seizures associated with ADNFLE can vary in severity and may include:

  • Brief hypermotor seizures: These are characterized by sudden, brief episodes of intense motor activity, such as thrashing or flailing.
  • Tonic seizures: These involve a stiffening of the muscles, often accompanied by a loss of consciousness.
  • Clusters of seizures: ADNFLE is often associated with clusters of seizures that occur in close proximity to each other.

It's worth noting that 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.

[5]

Additional Characteristics

  • Brief hypermotor seizures: These are characterized by sudden, brief episodes of intense motor activity, such as thrashing or flailing.
  • Tonic seizures: These involve a stiffening of the muscles, often accompanied by a loss of consciousness.
  • Clusters of seizures: ADNFLE is often associated with clusters of seizures that occur in close proximity to each other.

Signs and Symptoms

Symptoms of Frontal Lobe Seizures

Frontal lobe seizures, also known as autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), are characterized by brief seizures that occur during sleep. The symptoms of these seizures can vary from person to person but often involve complex motor movements.

  • Motor Movements: Frontal lobe seizures typically involve short-lasting (less than 20 seconds) stereotyped movements involving the limbs, axial musculature, and/or the head [4].
  • Violent Movements: These seizures may also involve violent movements of arms or legs, similar to those seen in people having EEG monitoring [2].
  • Strange Posturing: People with frontal lobe epilepsy may exhibit strange posturing during these seizures.
  • Vocalizations: Vocalizations such as shouting, moaning, or crying are common during frontal lobe seizures [7].

These symptoms can occur in clusters and may be accompanied by other seizure-related features. It's essential to note that the age of onset for ADNFLE varies between 3 and 47 years, with a peak during childhood [4].

Additional Symptoms

  • Motor Movements
  • Violent Movements
  • Strange Posturing
  • Vocalizations

Diagnostic Tests

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be diagnosed through a combination of clinical history, neurological testing, and genetic tests.

Diagnostic Tests for ADNFLE:

  • Clinical History: A thorough medical history is essential to diagnose ADNFLE. The diagnosis relies on the presence of at least one of the following four criteria:
    • Motor event duration of less than 2 minutes [1]
    • Seizures occurring during non-REM sleep [4]
    • Seizures typically occurring at night (nocturnally) while an affected person is asleep [3]
  • Neurological Testing: The following tests can help diagnose frontal lobe seizures:
    • MRI: An MRI makes detailed pictures of the soft tissues in the brain, but it's usually normal in ADNFLE patients [6]
    • Video-EEG: This test may be diagnostic when demonstrating electroclinical seizures of frontal lobe origin [7]
  • Genetic Tests: Genetic tests may be recommended to look for gene changes. Mutations in three genes (CHRNA4, CHRNB2, and CHRNA2) have been identified as associated with ADNFLE [8]

It's essential to note that interictal EEG abnormalities are rare in ADNFLE patients, and ictal recordings often show non-specific or inconclusive patterns [9].

Additional Diagnostic Tests

  • Clinical History
  • Genetic Tests
  • Neurological Testing

Treatment

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

According to a study on the video-polysomnographic and genetic approach of 40 patients with ADNFLE, the treatment options for this condition are primarily focused on managing seizures through medication.

  • Antiepileptic drug (AED) therapy: The first line of treatment for frontal lobe seizures in individuals with ADNFLE is usually antiepileptic medication. This can be effective in controlling seizures and improving quality of life.
  • Specific AEDs: While the study does not specify particular AEDs, other sources suggest that medications like oxcarbazepine or carbamazepine may be effective in treating frontal lobe seizures.

It's essential to note that each individual with ADNFLE may respond differently to treatment, and a comprehensive approach involving medical professionals is necessary to determine the most suitable course of action.

Recommended Medications

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Differential Diagnosis

The differential diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) involves ruling out other conditions that may present with similar symptoms. According to the provided context, ADNFLE is often misdiagnosed as nightmares or benign nocturnal parasomnias [6][7]. Other conditions that may be considered in the differential diagnosis include:

  • Benign nocturnal sleep-related epilepsy (BNSRE)
  • Sleep-related hypermotor epilepsy (SHE)
  • Nocturnal frontal lobe epilepsy (NFLE)
  • Parasomnia
  • Nightmares

To accurately diagnose ADNFLE, a thorough evaluation of the patient's medical history, physical examination, and diagnostic tests such as electroencephalography (EEG) and nocturnal video-polysomnography are necessary [8][10]. These tests can help to identify the characteristic brief motor seizures that occur during sleep in individuals with ADNFLE.

It is also worth noting that ADNFLE may be misdiagnosed as other conditions, such as schizophrenia or intellectual disability, due to the presence of psychiatric disorders or behavioral problems in some cases [3].

References: [6] - Sleep-related hypermotor (hyperkinetic) epilepsy (SHE) is a focal epilepsy syndrome with characteristic brief motor seizures occurring from sleep. [7] - Nocturnal frontal lobe epilepsy was first described in 1981 in 5 people with peculiar movements that happen in sleep. [8] - Therefore nocturnal video-polysomnography is most helpful for differential diagnosis. Without, ADNFLE is often misdiagnosed as, for example, benign nocturnal ... [10] - Abstract. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an idiopathic epilepsy, with a spectrum of clinical manifestations, ranging from brief, stereotyped, sudden arousals to more complex dystonic–dyskinetic seizures. Video–polysomnography allows a correct differential diagnosis.

Additional Differential Diagnoses

Additional Information

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