The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure

Kia H. Markussen; Jessica K.A. Macedo; María Machío; Alison Dolce; Y. Paul Goldberg; Craig W. Vander Kooi; Matthew S. Gentry

doi:10.1016/j.yebeh.2021.107975

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure

Kia H. Markussen, Jessica K.A. Macedo, María Machío, Alison Dolce, Y. Paul Goldberg, Craig W. Vander Kooi, Matthew S. Gentry

Research output: Contribution to journal › Review article › peer-review

11 Scopus citations

Abstract

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^th 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.

Original language	English
Article number	107975
Journal	Epilepsy and Behavior
Volume	119
DOIs	https://doi.org/10.1016/j.yebeh.2021.107975
State	Published - Jun 2021

Bibliographical note

Publisher Copyright:
© 2021 Elsevier Inc.

Funding

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. 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. 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.

Funders	Funder number
University of Kentucky College of Medicine
National Institutes of Health (NIH)	P01 NS097197
National Institutes of Health (NIH)
National Childhood Cancer Registry – National Cancer Institute	T32CA165990
National Childhood Cancer Registry – National Cancer Institute
Institute of Neurological Disorders and Stroke National Advisory Neurological Disorders and Stroke Council	R35NS116824
Institute of Neurological Disorders and Stroke National Advisory Neurological Disorders and Stroke Council
Valerion Therapeutics
ISIS Pharmaceuticals

Keywords

Anti-sense oligonucleotide
Childhood dementia
Epilepsy
Glycogen
Glycogen storage disease
Lafora disease

ASJC Scopus subject areas

Neurology
Clinical Neurology
Behavioral Neuroscience

Access to Document

10.1016/j.yebeh.2021.107975

Cite this

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title = "The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure",

abstract = "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.",

keywords = "Anti-sense oligonucleotide, Childhood dementia, Epilepsy, Glycogen, Glycogen storage disease, Lafora disease",

author = "Markussen, \{Kia H.\} and Macedo, \{Jessica K.A.\} and Mar{\'i}a Mach{\'i}o and Alison Dolce and Goldberg, \{Y. Paul\} and \{Vander Kooi\}, \{Craig W.\} and Gentry, \{Matthew S.\}",

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doi = "10.1016/j.yebeh.2021.107975",

language = "English",

volume = "119",

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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.

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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.

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KW - Childhood dementia

KW - Epilepsy

KW - Glycogen

KW - Glycogen storage disease

KW - Lafora disease

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The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure

Abstract

Bibliographical note

Funding

Keywords

ASJC Scopus subject areas

Access to Document

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