SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American populations where studies on the genetic and phen...

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Detalles Bibliográficos
Autores principales: Cornejo-Sanchez, Diana M., Acharya, Anushree, Bharadwaj, Thashi, Marin-Gomez, Lizeth, Pereira-Gomez, Pilar, Nouel-Saied, Liz M., Nickerson, Deborah A., Bamshad, Michael J., Mefford, Heather C., Schrauwen, Isabelle, Carrizosa-Moog, Jaime, Cornejo-Ochoa, William, Pineda-Trujillo, Nicolas, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140479/
https://www.ncbi.nlm.nih.gov/pubmed/35627139
http://dx.doi.org/10.3390/genes13050754

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140479/
https://www.ncbi.nlm.nih.gov/pubmed/35627139
http://dx.doi.org/10.3390/genes13050754

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