Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

OBJECTIVE: To perform functional characterization of a potentially pathogenic KCNB1 variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG. METHODS: Whole-exome sequencing identified the KCNB1 variant c....

Descripción completa

Detalles Bibliográficos
Autores principales: Calhoun, Jeffrey D., Vanoye, Carlos G., Kok, Fernando, George, Alfred L., Kearney, Jennifer A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733249/
https://www.ncbi.nlm.nih.gov/pubmed/29264390
http://dx.doi.org/10.1212/NXG.0000000000000198

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733249/
https://www.ncbi.nlm.nih.gov/pubmed/29264390
http://dx.doi.org/10.1212/NXG.0000000000000198

Ejemplares similares