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A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.
- Source :
-
Child neurology open [Child Neurol Open] 2022 Oct 05; Vol. 9, pp. 2329048X221126361. Date of Electronic Publication: 2022 Oct 05 (Print Publication: 2022). - Publication Year :
- 2022
-
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.<br />Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.<br /> (© The Author(s) 2022.)
Details
- Language :
- English
- ISSN :
- 2329-048X
- Volume :
- 9
- Database :
- MEDLINE
- Journal :
- Child neurology open
- Publication Type :
- Report
- Accession number :
- 36211619
- Full Text :
- https://doi.org/10.1177/2329048X221126361