A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability. Recently, genetic studies have indicated that a significant por...

Descripción completa

Detalles Bibliográficos
Autores principales: Rapaccini, Valentina, Esposito, Susanna, Strinati, Francesco, Allegretti, Mariella, Manfroi, Elisabetta, Miconi, Francesco, Pitzianti, Mariabernarda, Prontera, Paolo, Principi, Nicola, Pasini, Augusto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073498/
https://www.ncbi.nlm.nih.gov/pubmed/29986434
http://dx.doi.org/10.3390/ijms19071976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073498/
https://www.ncbi.nlm.nih.gov/pubmed/29986434
http://dx.doi.org/10.3390/ijms19071976

Ejemplares similares