Epilepsy Behav. 2020 Oct;111:107276. doi: 10.1016/j.yebeh.2020.107276. Epub 2020 Aug 1.
• The Epilepsies’ landscape has dramatically changed with increased rare epilepsy diagnoses, organizations, and therapeutic targets. • Many rare epilepsies lack standardized clinical guidelines and cures and interventions to improve developmental outcomes and quality of life. • The Rare Epilepsy Landscape Analysis (RELA) was a first-of-its-kind qualitative analysis of 44 rare epilepsy organizations. • Common challenges emerged around multi-disciplinary care access, population burden, and research funding commensurate with opportunities. • Consensus among Rares to develop Rare Epilepsy Centers of Excellence, a National Epilepsy Registry, and new paradigms and funding for research.
• 随着罕见癫痫诊断、组织和治疗靶点的增加，癫痫领域发生了巨大变化。
• 许多罕见癫痫缺乏标准化的临床指南和治疗方法，也缺乏改善发育结果和生活质量的干预措施。
• 罕见癫痫景观分析（RELA）是对 44 个罕见癫痫组织的首次定性分析。
• 常见的挑战包括多学科护理的可及性、人群负担以及与机会相称的研究资金。
• 罕见病患者达成共识，要建立卓越的罕见癫痫中心、国家癫痫登记处，并为研究制定新的模式和资金。
