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Autoimmune Epilepsy Evaluation

Test code(s) 5100

Question 1. What is the clinical use of autoantibody detection in patients with seizures?

Autoantibodies that target ion channels, receptors, and other proteins involved in neural activity in the brainare increasingly recognized as a potential cause of recurrent seizures. Detection of these autoantibodies can help diagnose the cause of unexplained seizures in patients with acute or subacute presentation.1-4

Question 2. Which autoantibodies are included in the Autoimmune Epilepsy Evaluation?

The Autoimmune Epilepsy Evaluation tests for autoantibodies directed againstglutamic acid decarboxylase (GAD65) and neuronal cell surface antigens1-5, such as N-methyl-D-aspartate receptor (NMDAR) and voltage gated potassium channel (VGKC)-complexes (leucine-rich glioma-inactivated protein 1 [LGI1] and contactin-associated protein-like 2 [CASPR2]).1,3-7 These autoantibodies have been linked to epilepsy with acute or subacute onset (<12 weeks), either with or without encephalitis,8 and are included in proposed recommendations for identification of autoimmune epilepsy in children.4

Question 3. Are autoantibodies associated with specific clinical syndromes?

Detection of autoantibodies may correspond to well-defined clinical syndromes (including limbic encephalitis and anti-NMDAR encephalitis) or newly described syndromes (ie, faciobrachial dystonic seizures associated with LGI1 antibodies). However, autoimmune epilepsies remain a highly heterogeneous group of disorders and often do not correspond to a specific syndrome.

Question 4. Could these autoantibodies be a byproduct of long-standing seizures, rather than a cause?

These autoantibodies are found as often in patients with newly diagnosed epilepsy as in those with established epilepsy. Therefore, the presence of autoantibodies is likely not an epiphenomenon of long-standing seizures.1

Question 5. Could the results of testing change the clinical management of patients with seizures?

Yes, they might. Patients with an autoimmune form of epilepsy often exhibit resistance to antiepileptic drugs. However, patients with neurological syndromes associated with antibodies toward neuronal cell surface antigens have been shown to respond well to immunotherapy.3,9 Therefore, the identification of an autoimmune etiology in patients with antiepileptic drug-resistant seizures, including those lacking typical limbic encephalitis phenotypes, could permit the early initiation of immunotherapy. Treating these individuals may lead to improved outcomes.7,10

 

References
 
  1. Brenner T, Sills GJ, Hart Y, et al. Prevalence of neurologic autoantibodies in cohorts of patients with new and established epilepsy. Epilepsia 2013;54:1028-35.
  2. Holzer FJ, Rossetti AO, Heritier-Barras AC, et al. Antibody-mediated status epilepticus: a retrospective multicenter survey. Eur Neurol 2012;68:310-7.
  3. Quek AM, Britton JW, McKeon A, et al. Autoimmune epilepsy: clinical characteristics and response to immunotherapy. Arch Neurol 2012;69:582-93.
  4. Suleiman J, Wright S, Gill D, et al. Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies. Epilepsia 2013.
  5. McKnight K, Jiang Y, Hart Y, et al. Serum antibodies in epilepsy and seizure-associated disorders. Neurology 2005;65:1730-6.
  6. Lilleker JB, Jones MS, Mohanraj R. VGKC complex antibodies in epilepsy: Diagnostic yield and therapeutic implications. Seizure : the journal of the British Epilepsy Association 2013;22:776-9.
  7. Suleiman J, Brilot F, Lang B, Vincent A, Dale RC. Autoimmune epilepsy in children: case series and proposed guidelines for identification. Epilepsia 2013;54:1036-45.
  8. Irani SR, Bien CG, Lang B. Autoimmune epilepsies. Curr Opin Neurol 2011;24:146-53.
  9. Irani SR, Michell AW, Lang B, et al. Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis. Annals of neurology 2011;69:892-900.
  10. Suleiman J, Wright S, Gill D, et al. Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies. Epilepsia 2013;54:2091-100.
This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
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