TY - JOUR
T1 - The 6th International Lafora Epilepsy Workshop
T2 - Advances in the search for a cure
AU - Markussen, Kia H.
AU - Macedo, Jessica K.A.
AU - Machío, María
AU - Dolce, Alison
AU - Goldberg, Y. Paul
AU - Vander Kooi, Craig W.
AU - Gentry, Matthew S.
N1 - Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2021/6
Y1 - 2021/6
N2 - 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 6th 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.
AB - 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 6th 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.
KW - Anti-sense oligonucleotide
KW - Childhood dementia
KW - Epilepsy
KW - Glycogen
KW - Glycogen storage disease
KW - Lafora disease
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U2 - 10.1016/j.yebeh.2021.107975
DO - 10.1016/j.yebeh.2021.107975
M3 - Review article
C2 - 33946009
AN - SCOPUS:85104958459
SN - 1525-5050
VL - 119
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
M1 - 107975
ER -