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...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Case Study
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7951104/
https://ncbi.nlm.nih.gov/pubmed/33497533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51272
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