Autoimmune epilepsy

Guiding the right treatment for patients

Autoimmune epilepsy is increasingly recognized in the spectrum of immune-mediated neurological disorders, which can be characterized by detection of neural autoantibodies in serum or spinal fluid and responsiveness to immunotherapy. The advent of more sensitive and specific serological detection methods is increasingly revealing previously underappreciated autoimmune epilepsies. Neural autoantibodies specific for intracellular and plasma membrane antigens aid the diagnosis of autoimmune epilepsy, but no single antibody is specific for this diagnosis.

Autoimmune epilepsy Test menu

Epilepsy

Identifying epilepsy as autoimmune-mediated is crucial because patients may benefit from immune suppression, while traditional antiepileptic therapy may not be effective.

Key testing

Advantages

  • Comprehensive analysis of multiple neural antibodies with known association to epilepsy.
  • Positive results assist physician in selecting immune therapy.
  • Mayo Clinic neurologists available to assist in reviewing and interpreting results.

Highlights


GABA-A RECEPTOR ANTIBODIES

Our cell-based GABA-A receptor antibody test is recommended — in conjunction with other autoimmune neurology profiles — for patients who present with encephalopathy with seizures. These patients also typically have multifocal large cerebral temporal and extra-temporal T2 signal abnormalities without enhancement. GABA-A receptor antibodies are biomarkers of autoimmune encephalopathy, which may occur at any age and disproportionately affects children. GABA-A receptor antibodies are the third most common neuronal biomarker in children, behind only NMDA receptor and MOG antibodies. Because disease associated with the GABA-A receptor antibody is responsive to immunotherapy if treated early, accurate and timely testing is critical.

Key testing

Advantages

  • Specific phenotype (88% of patients have refractory seizures).
  • Evaluating GABA-A receptor improves diagnostic sensitivity thereby increasing physician confidence.
  • Provides reliable confirmation of GABA-A receptor-associated disease without the need for reflex testing.
  • 75% of GABA-A receptor-positive patients had a partial or complete recovery with proper treatment.2
  • Direct a search for cancer when appropriate (thymoma).

Additional testing

Can be ordered as a standalone test in addition to the autoimmune encephalopathy, autoimmune epilepsy, or pediatric CNS autoimmune evaluations in patients who present with encephalopathy with seizures.

Highlights


References
  1. Internal Mayo Clinic study.
  2. O'Connor K, Waters P, Komorowski L, et al. GABAA receptor autoimmunity: A multicenter experience. Neurol Neuroimmunol Neuroinflamm. 2019;6(3):e552. Published 2019 Apr 4. doi:10.1212/NXI.0000000000000552
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