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

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

Abstract 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 cerebe...

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Main Authors: Christopher M. McGraw, Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor, Trevor Resnick, Lance Rodan, Marc A. Schwartz, Ayesha Ejaz, Vijay G. Sankaran, Gerard Berry, Annapurna Poduri
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51272

Internet

https://doi.org/10.1002/acn3.51272

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