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 - Funding Information:
M.S.G. received funding from Valerion Therapeutics (which is now EnAble Therapeutics) and Ionis Pharmaceuticals . Y.P.G. is an employee and shareholder in Ionis Pharmaceuticals.
Funding Information:
M.S.G. received funding from Valerion Therapeutics (which is now EnAble Therapeutics) and Ionis Pharmaceuticals. Y.P.G. is an employee and shareholder in Ionis Pharmaceuticals.Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Numbers R35 NS116824 (MSG) and P01 NS097197 (M.S.G) and Valerion Therapeutics (M.S.G). J.K.A.M was supported by NIH/NCI training grant T32CA165990. We thank Mr. Brian W. Goodley at the University of Kentucky College of Medicine for logistical support and planning the event. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
Funding Information:
Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Numbers R35 NS116824 (MSG) and P01 NS097197 (M.S.G) and Valerion Therapeutics (M.S.G). J.K.A.M was supported by NIH / NCI training grant T32CA165990 . We thank Mr. Brian W. Goodley at the University of Kentucky College of Medicine for logistical support and planning the event. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
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 -