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- Jaume Sastre-Garriga
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[1]Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010; 51: 676–685. https://doi.org/10.1111/j.1528-1167.2010.02522.x.
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- Jaume Sastre-Garriga
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Landau-Kleffner Syndrome: Current Etiopathogenesis and Management
, Karla P. Meneses-León 1,2, Dira B. Monsalvo-Soler 1,2, Alondra M. Morales-Segundo 1,2, Laura Gómez-Virgilio 2,3, Gustavo López-Toledo 2,3,*
1 Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), 04510 Ciudad de México, México
2 Coordinación de Investigación, Hospital Ángeles Lindavista, 07760 Ciudad de México, México
3 Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), 04510 Ciudad de México, México
Abstract
Landau-Kleffner syndrome is a developmental epileptic encephalopathy that manifests mainly in pediatric patients, characterized by verbal auditory agnosia and focal, bilateral, and focal and diffuse epileptic activity, visualized through electroencephalographic recordings performed during sleep. It is a rare syndrome with a variable, multifactorial presentation and unknown etiology, although it has a genetic component in some cases. It is often associated with variants of the glutamate ionotropic receptor N-methyl-D-aspartate (NMDA) type subunit 2A (GRIN2A) gene, which encodes an NMDA receptor subunit of the same name that is involved in various neurophysiological processes. Modifications to this receptor could be associated with the clinical manifestations observed in patients. This review proposes a pathophysiological mechanism related to one of the clinical presentations of this disease, using information published in recent years, and contributes to the understanding of its pathology and the improvement of its management. This syndrome is a rare and complex disease; both its diagnosis and treatment are challenging, limiting patients’ therapeutic options and compromising their quality of life.
Keywords
- aphasia
- molecular diagnosis
- electroencephalogram
- acquired epilepsy
- GRIN2A protein
- molecularly targeted therapy
References
- [1]
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