Construction of a clinical classification framework and clinical management strategies for epilepsy-related rare diseases_Journal of Epilepsy

Authors：

LI Qinrui ^1,2 , YANG Zhixian ^1,2 , DUAN Lirong ³ ,  QIN Jiong ^1,2

1. Department of Pediatrics, Peking University People’s Hospital, Beijing 100044, China;
2. Epilepsy Center, Peking University People’s Hospital, Beijing 100044, China;
3. The China Association Against Epilepsy (CAAE), Beijing 100053, China;

Corresponding?author：

QIN Jiong, Email: qinjiong@pkuph.edu.cn

Keywords：

Epilepsy; Rare Diseases; Classification; Clinical management

DOI：

10.7507/2096-0247.202601009

Video：

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Epilepsy is an important or common clinical manifestation of numerous rare diseases, frequently emerging as an initial or core symptom in children and adolescents. Due to the low prevalence and heterogeneous clinical presentations of rare diseases, as well as generally insufficient awareness and limited research among both patients and healthcare providers, epilepsy-related rare diseases are often subject to diagnostic delays, misdiagnosis, and suboptimal management in routine clinical practice. To address these challenges, the development of a systematic, clear, and clinically applicable classification catalogue for epilepsy-related rare diseases is critical for enhancing disease recognition, standardizing diagnostic and therapeutic methods, developing expert consensus, and optimizing healthcare resources allocation. Focusing on the prominent challenges of epilepsy in rare diseases, this article systematically outlines the background, classification principles, and overall framework for epilepsy-related rare diseases. Furthermore, we further highlight the pivotal role of this classification system in improving clinical management, promoting multidisciplinary collaboration, and guiding health policy formulation. The proposed framework is intended to serve as a foundational reference for the standardized and holistic management of epilepsy-related rare diseases.

Citation： LI Qinrui, YANG Zhixian, DUAN Lirong, QIN Jiong. Construction of a clinical classification framework and clinical management strategies for epilepsy-related rare diseases. Journal of Epilepsy, 2026, 12(2): 110-121. doi: 10.7507/2096-0247.202601009 Copy

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36. Opladen T, Lopez-Laso E, Cortes-Saladelafont E, et al. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies. Orphanet Journal of Rare Diseases, 2020, 15(1): 126.
37. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. Gene Reviews, Seattle (WA), 1993.
38. Rha AK, Maguire AS, Martin DR. GM1 gangliosidosis: mechanisms and management. Application of Clinical Genetics, 2021, 14: 209-233.
39. Regier DS, Tifft CJ, Rothermel CE. GLB1-related disorders. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. Gene Reviews, Seattle (WA), 1993.
40. Lamichhane A, Rocha Cabrero F. Metachromatic leukodystrophy. Stat Pearls, Treasure Island (FL), 2025.
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