A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments. (October 2022)
- Record Type:
- Journal Article
- Title:
- A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments. (October 2022)
- Main Title:
- A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
- Authors:
- Nordli, Douglas R.
Rao, Chethan K.
Delgado-Escueta, Antonio V.
Galan, Fernando - Abstract:
- Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.
- Is Part Of:
- Child neurology open. Volume 9(2022)
- Journal:
- Child neurology open
- Issue:
- Volume 9(2022)
- Issue Display:
- Volume 9, Issue 2022 (2022)
- Year:
- 2022
- Volume:
- 9
- Issue:
- 2022
- Issue Sort Value:
- 2022-0009-2022-0000
- Page Start:
- Page End:
- Publication Date:
- 2022-10
- Subjects:
- epilepsy -- genetic epilepsy -- progressive myoclonic epilepsy -- lafora disease
Pediatric neurology -- Periodicals
618.928005 - Journal URLs:
- http://cno.sagepub.com/ ↗
http://journals.sagepub.com/toc/CNO/current ↗
http://www.sagepublications.com/ ↗ - DOI:
- 10.1177/2329048X221126361 ↗
- Languages:
- English
- ISSNs:
- 2329-048X
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 24220.xml