MRI in Autosomal Dominant Partial Epilepsy With Auditory Features
Condition: Epilepsies, Partial
MeSH terms: Epilepsy; Epilepsies, Partial
Study type: Observational

Summary: 
      This study will examine the possible structural and functional abnormalities in patients with
      an inherited form of epilepsy. It will use magnetic resonance imaging (MRI). Uncontrolled
      epilepsy is a serious neurological problem with major harmful medical, social, and
      psychological effects, as well as greater mortality compared with the general population. The
      cost per year in the United States is at least $12.5 billion. There have been advances in
      diagnosing the disease, but the cause cannot be determined in many cases. Recently, several
      seizure syndromes found in families have been described. One syndrome of particular interest
      involves the lateral temporal lobe of the brain and often includes auditory features.
      Patients with that kind of syndrome may hear monotonous unformed sounds, but sometimes they
      may hear complex sounds, such as a song.

      Patients are eligible for this study if they have a specific form of familial epilepsy that
      is being studied at Columbia University in New York. Family members without seizures are
      eligible as well. All the patients in the study will be evaluated at Columbia before
      participating. Healthy volunteers aged 18 to 55 also may be eligible for this study.

      Participants will undergo a medical history and physical examination. During the study, they
      may have three or four sessions of MRI. During the MRI, patients will lie still on a table
      that can slide in and out of a metal cylinder surrounded by a strong magnetic field. Scanning
      time varies from 20 minutes to 3 hours, with most scans lasting between 45 and 90 minutes.
      Patients may be asked to lie still for up to 60 minutes at a time. As the scanner takes
      pictures, there will be loud knocking noises, and the patients will wear earplugs to muffle
      the sound. Patients will be able to communicate with the MRI staff at all times during the
      scan and may ask to be moved out of the machine at any time. Some scans may be done in a 3
      Tesla scanner. It is the latest advance in MRI, with a stronger magnetic field than in the
      more common 1.5 Tesla scanner. Functional MRI (fMRI) is done while patients are performing
      tasks, such as moving a limb or speaking. Patients will have an opportunity to practice such
      tasks before entering the scanner. The fMRI will take about 1 hour.

      ...
    

Detailed description: 
      Objectives: to study potential structural and functional abnormalities in patients with an
      inherited form of epilepsy.

      Study Population: Patients with autosomal dominant partial epilepsy with auditory features, a
      newly described syndrome, asymptomatic family members who are gene carriers, and unaffected
      family members, and normal volunteers.

      Design: magnetic resonance imaging, electroencephalography, and magnetoencephalography.

      Outcome measures: detection of structural lesions; regional activation patterns on fMRI.
    

Keywords: Genetics; Seizures; Brain Imaging; Diffusion; Temporal Lobe