Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atro...

Descripción completa

Detalles Bibliográficos
Autores principales: McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951104/
https://www.ncbi.nlm.nih.gov/pubmed/33497533
http://dx.doi.org/10.1002/acn3.51272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951104/
https://www.ncbi.nlm.nih.gov/pubmed/33497533
http://dx.doi.org/10.1002/acn3.51272

Ejemplares similares