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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Ann Clin Transl Neurol
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2021
Schlagworte:
Case Study
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge