The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
复制标题
DOI：
10.1016/j.yebeh.2019.106839
复制
发表时间：
2020-02-01
影响因子：
2.6
通讯作者：
Serratosa, Jose M.
中科院分区：
文献类型：
--
作者：
Gentry, Matthew S.;Afawi, Zaid;Serratosa, Jose M.
Lafora病（LD）是一种致命的儿童癫痫和糖原累积病，由癫痫进行性肌阵挛2A（EPM2A）或EPM2B基因的隐性突变引起。LD的特征是称为Lafora小体（LB）的异常细胞质碳水化合物聚集体，其是疾病驱动因素。第五届国际拉福拉癫痫研讨会最近在西班牙的阿尔卡拉德埃纳雷斯举行。该研讨会汇集了近100名临床医生，学术和行业科学家，受训人员，美国国立卫生研究院（NIH）代表以及LD患者的朋友和家人。研讨会涵盖了LD的各个方面，从定义基本科学机制到阐明LD疗法或治愈以及最近启动的LD自然史研究。(C)2019 Elsevier Inc版权所有。
Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study. (C) 2019 Elsevier Inc All rights reserved.