A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early-onset epileptic encephalopathy in a female infant

Early-onset epileptic encephalopathy (EOEE) represents one of the most severe epilepsies, characterized by recurrent seizures during early infancy, electroencephalogram (EEG) abnormalities and varying degrees of neurodevelopmental delay. The KCNQ2 gene has been reported to have a major role in EOEE....

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Hai-Feng, Yuan, Ting-Yun, Yang, Jia-Wu, Li, Feng, Wang, Fan, Fu, Hong-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364154/
https://www.ncbi.nlm.nih.gov/pubmed/35856407
http://dx.doi.org/10.3892/mmr.2022.12797

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364154/
https://www.ncbi.nlm.nih.gov/pubmed/35856407
http://dx.doi.org/10.3892/mmr.2022.12797

Ejemplares similares