Mutations in HECW2 are associated with intellectual disability and epilepsy

BACKGROUND: De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these condi...

Descripción completa

Detalles Bibliográficos
Autores principales: Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099177/
https://www.ncbi.nlm.nih.gov/pubmed/27334371
http://dx.doi.org/10.1136/jmedgenet-2016-103814

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099177/
https://www.ncbi.nlm.nih.gov/pubmed/27334371
http://dx.doi.org/10.1136/jmedgenet-2016-103814

Ejemplares similares