Autosomal dominant nocturnal frontal lobe epilepsy

How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed?

A diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made based on signs and symptoms. In addition to the doctor taking a detailed medical and family history from the person with symptoms, obtaining information from others who see episodes occur is very helpful. In some cases, video-EEG monitoring during sleep is needed.

The features that suggest a diagnosis of ADNFLE include:

  • Clusters of seizures that occur mainly during sleep.
  • A normal neurologic exam and normal findings on brain imaging tests.
  • A normal EEG recorded during a seizure (ictal EEG), or one that is obscured by movement of the cables or electrodes.
  • An EEG recorded between seizures (interictal EEG) that shows few or no instances of patterns seen in people with epilepsy.
  • The presence of the same disorder in other family members, with evidence of autosomal dominant inheritance.

If ADNFLE is suspected, genetic testing may be ordered. However, genetic testing can confirm the diagnosis in only 20% of people with a family history of ADNFLE, and in fewer than 5% of people with no family history.

Last updated on 05-01-20

What is autosomal dominant nocturnal frontal lobe epilepsy?

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. It is diagnosed based on symptoms and the results of tests such as an EEG. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In most cases however, the genetic cause is not found. Seizures can usually be controlled with anti-seizure medications.

Last updated on 05-01-20

Name: Epilepsy Foundation 8301 Professional Place East Suite 230
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Phone: 0113 210 8800 (UK) or +44 (0)113 210 8800 (international) Fax : 0113 391 0300 (UK) or +44 (0)113 391 0300 (international) Email: epilepsy@epilepsy.org.uk Url: https://www.epilepsy.org.uk/

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