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A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.

Authors :
Nordli DR
Rao CK
Delgado-Escueta AV
Galan F
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