Pragmatic screening for autoimmune-associated epilepsy in drug-resistant epilepsy of unknown etiology in resource-limited settings: A hypothesis-generating study.

IF 2.5 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders Pub Date : 2026-10-08 DOI:10.1002/epd2.70439

Tomásia O de H M Frezatti, Ricardo L Saute, Veriano Alexandre Júnior, Frederico N Nakano, Marina T R P Dalio, Tonicarlo R Velasco, João P Leite, Antônio Carlos Dos Santos, Vanessa D Marques, Américo C Sakamoto

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引用次数: 0

Abstract

Objective: To evaluate the feasibility of investigating autoimmune etiology in adults with drug-resistant epilepsy (DRE) of unknown origin in resource-limited settings and to develop a pragmatic, hypothesis-generating screening approach to guide autoantibody testing.

Methods: A prospective observational study including adults with DRE of unknown etiology was conducted at a tertiary epilepsy center in Brazil. All patients underwent standardized assessment including inflammatory and autoimmunity markers, brain magnetic resonance imaging (MRI), electroencephalography (EEG), cerebrospinal fluid (CSF) analysis, and application of the APE2 and ACES scores. Clinical, laboratory, and imaging findings were analyzed in the context of published autoimmune-associated epilepsy (AAE) profiles to inform a pragmatic screening strategy.

Results: Twenty-six patients (46.2% female; median epilepsy duration: 18.5 years) were included. EEG findings were nonspecific. Six patients developed mesial temporal abnormalities on follow-up MRI. CSF protein elevation was observed in 37.5%, oligoclonal bands in 13.6%, and elevated IgG index in 18.2%. Antinuclear antibodies were detected in 26.9%. APE2 score ≥ 4 was present in 57.7%, while ACES score ≥ 2 occurred in 11.5%. Due to limited access to antibody testing, only one patient underwent CSF autoantibody analysis, confirming high-titer anti-GAD65. Based on integrated clinical, laboratory, and imaging findings, a pragmatic screening algorithm was proposed to prioritize candidates for autoantibody testing.

Significance: In resource-limited settings, systematic use of accessible clinical and laboratory markers may help identify patients with higher pre-test probability of AAE. A pragmatic screening approach may improve diagnostic efficiency and support individualized decision-making when comprehensive antibody testing is not readily available.

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来源期刊

Epileptic Disorders 医学-临床神经学

CiteScore

4.10

自引率

8.70%

发文量

138

审稿时长

6-12 weeks

期刊介绍： Epileptic Disorders is the leading forum where all experts and medical studentswho wish to improve their understanding of epilepsy and related disorders can share practical experiences surrounding diagnosis and care, natural history, and management of seizures. Epileptic Disorders is the official E-journal of the International League Against Epilepsy for educational communication. As the journal celebrates its 20th anniversary, it will now be available only as an online version. Its mission is to create educational links between epileptologists and other health professionals in clinical practice and scientists or physicians in research-based institutions. This change is accompanied by an increase in the number of issues per year, from 4 to 6, to ensure regular diffusion of recently published material (high quality Review and Seminar in Epileptology papers; Original Research articles or Case reports of educational value; MultiMedia Teaching Material), to serve the global medical community that cares for those affected by epilepsy.