Skip to main content Accessibility help
×
Home
Hostname: page-component-55597f9d44-5zjcf Total loading time: 2.197 Render date: 2022-08-08T14:40:29.996Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "useRatesEcommerce": false, "useNewApi": true } hasContentIssue true
The Causes of Epilepsy The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
Buy print or eBook[Opens in a new window]

Book contents

Chapter 18 - Lafora body disease

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
Get access

Summary

Lafora disease typically starts between ages 12 and 17 years, after a period of apparently normal development. Lafora disease-associated mutations are scattered all along the coding regions of the EPM2A and NHLRC1 genes, but also accumulate in discrete spots of high recurrence. The main seizure types in Lafora disease include myoclonic seizures and occipital seizures, although generalized tonic-clonic seizures, atypical absence seizures, and atonic and complex partial seizures may occur. Studies of the combined mutation detection frequency of sequence analysis in EPM2A and NHLRC1 reveal that between 88% and 97% of mutations in these two genes can be detected using sequence analysis alone. Antiepileptic drugs have a major effect against generalized seizures, sometimes controlling seizures for many months. Valproic acid is the traditional antiepileptic treatment for Lafora disease because it is a broad-spectrum drug that controls both the generalized tonic-clonic seizures and myoclonic jerks.
Type
Chapter
Information
The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 143 - 146
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×