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Expanding the genotype-phenotype spectrum in SCN8A-related disorders

BACKGROUND: SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebe...

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Detalles Bibliográficos
Autores principales:	Hebbar, Malavika, Al-Taweel, Nawaf, Gill, Inderpal, Boelman, Cyrus, Dean, Richard A, Goodchild, Samuel J, Mezeyova, Janette, Shuart, Noah Gregory, Johnson, J. P., Lee, James, Michoulas, Aspasia, Huh, Linda L, Armstrong, Linlea, Connolly, Mary B, Demos, Michelle K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Journal Experts 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10441468/ https://www.ncbi.nlm.nih.gov/pubmed/37609289 http://dx.doi.org/10.21203/rs.3.rs-3221902/v1

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