Cargando…
SCN8A Encephalopathy: Case Report and Literature Review
Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the m...
Autores principales: | Fan, Hueng-Chuen, Lee, Hsiu-Fen, Chi, Ching-Shiang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167728/ https://www.ncbi.nlm.nih.gov/pubmed/33915942 http://dx.doi.org/10.3390/neurolint13020014 |
Ejemplares similares
-
SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases
por: Fatema, Kanij, et al.
Publicado: (2019) -
Neuraxial block anesthetic technique in a patient with SCN8A encephalopathy: case report
por: Machado, Eric Guimar.·es, et al.
Publicado: (2021) -
Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
por: Fan, Hueng-Chuen, et al.
Publicado: (2021) -
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
por: Lin, Kao-Min, et al.
Publicado: (2019) -
A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report
por: Keshri, Swasti, et al.
Publicado: (2021)