A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

We characterized an autosomal-recessive syndrome of focal epilepsy, dysarthria, and mild to moderate intellectual disability in a consanguineous Arab-Israeli family associated with subtle cortical thickening. We used multipoint linkage analysis to map the causative mutation to a 3.2 Mb interval with...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Corbett, Mark A., Bahlo, Melanie, Jolly, Lachlan, Afawi, Zaid, Gardner, Alison E., Oliver, Karen L., Tan, Stanley, Coffey, Amy, Mulley, John C., Dibbens, Leanne M., Simri, Walid, Shalata, Adel, Kivity, Sara, Jackson, Graeme D., Berkovic, Samuel F., Gecz, Jozef
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2010
Materias:
Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933342/
https://ncbi.nlm.nih.gov/pubmed/20797691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.08.001
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares