第九届年度拉福拉科学研讨会：罕见癫痫社区在临床准备方面取得进展。

IF 2.3 3区医学 Q2 BEHAVIORAL SCIENCES

Epilepsy & Behavior Pub Date : 2025-08-27 DOI:10.1016/j.yebeh.2025.110654

Meredith I. Williams , Katherine J. Donohue , Pascual Sanz , Souad Messahel , Jose M. Serratosa , Jordi Duran , Roberto Michelucci , Lorenzo Muccioli , Antonio Delgado-Escueta , Viet-Huong V. Nguyen , Berge A. Minassian , Matthew S. Gentry

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引用次数: 0

摘要

Lafora病（LD）是一种致命的儿童进行性肌阵挛性癫痫和糖原储存病，由EPM2A或EPM2B的隐性突变引起。LD的特征是细胞质中异常的糖原样聚集体，称为拉福拉体（LBs），驱动疾病进展。第九届年度拉福拉科学研讨会在加利福尼亚州圣地亚哥举行，汇集了70多名研究人员、临床医生、学术学员、LD患者的朋友和家人以及80名与会者虚拟参加。本次研讨会主要关注治疗开发和生物标志物鉴定方面的国际合作，以及为即将到来的临床试验准备Lafora社区的策略。

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The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness

Lafora disease (LD) is a fatal childhood progressive myoclonus epilepsy and glycogen storage disease that is caused by recessive mutations in either EPM2A or EPM2B. The hallmarks of LD are cytoplasmic, aberrant glycogen-like aggregates, called Lafora bodies (LBs), that drive disease progression. The 9th Annual Lafora Science Symposium was held in San Diego, California and brought together over 70 researchers, clinicians, academic trainees, and friends and family members of patients with LD and 80 attendees joined virtually. This symposium focused primarily on international collaborations for therapeutic development and biomarker identification and strategies for preparing the Lafora community for upcoming clinical trials.

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来源期刊

Epilepsy & Behavior 医学-行为科学

CiteScore

5.40

自引率

15.40%

发文量

385

审稿时长

43 days

期刊介绍： Epilepsy & Behavior is the fastest-growing international journal uniquely devoted to the rapid dissemination of the most current information available on the behavioral aspects of seizures and epilepsy. Epilepsy & Behavior presents original peer-reviewed articles based on laboratory and clinical research. Topics are drawn from a variety of fields, including clinical neurology, neurosurgery, neuropsychiatry, neuropsychology, neurophysiology, neuropharmacology, and neuroimaging. From September 2012 Epilepsy & Behavior stopped accepting Case Reports for publication in the journal. From this date authors who submit to Epilepsy & Behavior will be offered a transfer or asked to resubmit their Case Reports to its new sister journal, Epilepsy & Behavior Case Reports.