A carregar...
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....
Na minha lista:
| Publicado no: | Neurol Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5733249/ https://ncbi.nlm.nih.gov/pubmed/29264390 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000198 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|