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
- EPC2 | Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
- EPS2 | Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum
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.
- 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
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.
- ENC2 | Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
- ENS2 | Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum
Highlights
Supported by Mayo Clinic’s holistic, precision medicine approach, which included advanced genetic insights, access to an emerging therapy, and tailored treatment monitoring, Giana Urse gained the confidence and clarity she needed to pursue her dream of becoming a dog trainer.
Learn more about how Precision Epilepsy testing at Mayo Clinic Laboratories enables a holistic diagnostic care experience that supports better outcomes for patients with epilepsy.
Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.
Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.
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.
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.
The discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.
References
- Internal Mayo Clinic study.
- 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