Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis

GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dystonia). It is caused by heterozygous mutations in t...

Descripción completa

Detalles Bibliográficos
Autores principales: Mauri, Alessia, Duse, Alessandra, Palm, Giacomo, Previtali, Roberto, Bova, Stefania Maria, Olivotto, Sara, Benedetti, Sara, Coscia, Francesca, Veggiotti, Pierangelo, Cereda, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654628/
https://www.ncbi.nlm.nih.gov/pubmed/36362347
http://dx.doi.org/10.3390/ijms232113560

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654628/
https://www.ncbi.nlm.nih.gov/pubmed/36362347
http://dx.doi.org/10.3390/ijms232113560

Ejemplares similares