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.
基于2017版癲癇發作分類框架，國際抗癲癇聯盟（International League Against Epilepsy，ILAE）完成了癲癇發作操作性分類標準的更新。本次修訂由ILAE執行委員會任命的37人工作組共同完成：通過改良Delphi法（共識閾值設定為超過三分之二的多數）公開征求意見后形成修訂方案。該修訂方案在ILAE 官網公示征求意見后，執委會任命7名專家組成修訂小組對反饋意見進行整合，最終更新的分類標準于2025年4月在Epilepsia上發表。更新后的分類標準延續四大主要發作類別：局灶性、全面性、未知是否為局灶性或全面性和無法分類的發作，共包含4個主要類別和21種具體發作類型，并特別注重非英語語種的術語可譯性，旨在為從資源有限地區到高級專科癲癇中心的所有癲癇從業人員建立統一術語體系，并為患者及照護者提供通俗易懂的表述。鑒于癲癇發作分類在癲癇診斷和治療中的重要作用，本文融合中國癲癇領域專家解讀《癲癇發作分類標準更新：國際抗癲癇聯盟立場聲明》并形成共識，旨在推進該分類標準在我國癲癇領域臨床和科研中的應用。
