Autoimmune epilepsy

Improving patient outcomes through autoimmune testing

Neural autoantibodies specific for intracellular and plasma membrane antigens aid the diagnosis of autoimmune epilepsy, but no single antibody is specific for this diagnosis. Identifying epilepsy as autoimmune-mediated is crucial because patients may benefit from immune suppression, while traditional antiepileptic therapy may not be effective. If autoimmune epilepsy is misdiagnosed as an irreversible progressive neurodegenerative disorder, it may delay a correct diagnosis beyond the window of reversibility (6–12 months) and result in devastating consequences for the patient and family. An accurate diagnosis and early-initiated immunotherapy give patients the best possible outcome.

67%

In a Mayo Clinic study of 27 patients with suspected
autoimmune epilepsy treated with immunotherapy,
81% experienced clinical improvement and 67%
became seizure free.

When to consider testing

Consider autoimmune testing for patients presenting with new-onset epilepsy with incomplete seizure control, duration of less than two years, and one or more of the following:

  • Subacute progression (maximal seizure frequency within three months)
  • Multiple seizure types or faciobrachial dystonic seizures
  • Antiepileptic drug resistance
  • Psychiatric accompaniments (psychosis, hallucinations)
  • Movement disorder (myoclonus, tremor, dyskinesia)
  • Headache
  • Cognitive impairment/encephalopathy
  • Autoimmune stigmata (e.g., physical signs or personal/ family history of diabetes, thyroid disorder, vitiligo, prematurely gray hair, myasthenia gravis, rheumatoid arthritis, systemic lupus erythematosus)
  • History of cancer
  • Smoking history (20+ pack years) or other cancer risk factors
  • Inflammatory cerebrospinal fluid
  • Neuroimages suggesting inflammation (limbic or extratemporal)
  • Prior treatment with immune checkpoint inhibitors
  • Antibody prevalence in epilepsy and encephalopathy (APE2) score is ≥41
    • View the APE2 score calculator here

Key testing

EPC2 | Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

EPS2 | Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Phenotypic evaluations

Our autoimmune epilepsy evaluation is part of an evolving approach to testing for autoimmune neurological disorders using phenotypic-specific evaluations that include multiple antibodies known for their disease association.

Epilepsy Autoimmune Evaluation

Sean Pittock, M.D., gives an overview of the epilepsy autoimmune evaluations. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.

Watch video

Learn more about how to order this evaluation at your institution.

Articles and resources

Predictors to Direct Neural Antibody Testing in Autoimmune Encephalitis/Epilepsy
September 11, 2023

In this “Hot Topic,” Divyanshu Dubey, M.B.B.S., associate professor of laboratory medicine and pathology and neurology at Mayo Clinic, discusses various clinical and paraclinical features of autoimmune encephalitis, autoimmune seizures, and epilepsy.

Unraveling a diagnostic mystery: Ed Garber
December 5, 2022

Ed Garber spent months in physical and neurological decline while a cohort of care providers and specialists searched for the root cause of his symptoms. That search for answers ended after testing by Mayo Clinic Laboratories gave them the confirmatory diagnosis they needed.

Kelch-like protein 11 autoantibodies: A novel biomarker of testicular cancer associated neurological autoimmunity
July 22, 2021

This “Specialty Testing” webinar will discuss the collaborative effort which led to the discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.
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