Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with epileptic-like crises, combined with cerebral palsy...

Descripción completa

Detalles Bibliográficos
Autores principales: Lazo, Pedro A., García, Juan L., Gómez-Puertas, Paulino, Marcos-Alcalde, Íñigo, Arjona, Cesar, Villarroel, Alvaro, González-Sarmiento, Rogelio, Fons, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352878/
https://www.ncbi.nlm.nih.gov/pubmed/32585800
http://dx.doi.org/10.3390/ijms21124447

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352878/
https://www.ncbi.nlm.nih.gov/pubmed/32585800
http://dx.doi.org/10.3390/ijms21124447

Ejemplares similares