Department of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Department of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Markey Cancer Center, University of Kentucky, Lexington, KY, USA.
Epilepsy Behav. 2021 Jun;119:107975. doi: 10.1016/j.yebeh.2021.107975. Epub 2021 May 1.
Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) are both a hallmark and driver of the disease. The 6 International Lafora Epilepsy Workshop was held online due to the pandemic. Nearly 300 clinicians, academic and industry scientists, trainees, NIH representatives, and LD friends and family members participated in the event. Speakers covered aspects of LD including progress towards the clinic, the importance of establishing clinical progression, translational progress with repurposed drugs and additional pre-clinical therapies, and novel discoveries that define foundational LD mechanisms.
拉佛拉病（LD）是一种致命的儿童痴呆症，伴有严重的癫痫，也是一种糖原贮积病，由 EPM2A 或 EPM2B 基因的隐性突变引起。异常的、细胞质的碳水化合物聚集体称为拉佛拉体（LBs），既是疾病的标志，也是疾病的驱动因素。由于大流行，第六届国际拉佛拉癫痫研讨会在线上举行。近 300 名临床医生、学术和工业科学家、学员、NIH 代表以及 LD 的朋友和家人参加了此次活动。演讲者涵盖了 LD 的各个方面，包括向临床的进展、建立临床进展的重要性、重新利用药物和其他临床前疗法的转化进展，以及定义基础性 LD 机制的新发现。
