GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

BACKGROUND: De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopa...

Descripción completa

Detalles Bibliográficos
Autores principales: Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830060/
https://www.ncbi.nlm.nih.gov/pubmed/27072799
http://dx.doi.org/10.1186/s13023-016-0416-0

Ejemplares similares

Ejemplares similares