CDKL5 variants: Improving our understanding of a rare neurologic disorder

OBJECTIVE: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. METHODS: We analyzed all known potentially pathogenic CDKL5 variants by com...

Descripción completa

Detalles Bibliográficos
Autores principales: Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S., Cobb, Stuart R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732004/
https://www.ncbi.nlm.nih.gov/pubmed/29264392
http://dx.doi.org/10.1212/NXG.0000000000000200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732004/
https://www.ncbi.nlm.nih.gov/pubmed/29264392
http://dx.doi.org/10.1212/NXG.0000000000000200

Ejemplares similares