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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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2021
Sujets:
Case Study
Accès en ligne: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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