The second family affected with a PRDM8-related disease
The second family affected with a PRDM8-related disease
About this item
Full title
Author / Creator
Publisher
Cham: Springer International Publishing
Journal title
Language
English
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Publication information
Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
Introduction
Lafora disease (LD) is a severe form of progressive myoclonus epilepsy characterized by generalized seizures, myoclonus, intellectual decline, ataxia, spasticity, dysarthria, visual loss, and in later stages, psychosis and dementia. To date, mutations in the
EPM2A
and
EPM2B/NHLRC1
genes have been identified as the common...
Alternative Titles
Full title
The second family affected with a PRDM8-related disease
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2620772640
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2620772640
Other Identifiers
ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-021-05815-w
