Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia

Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia

Congenital disorders of glycosylation (CDG) are a group of more than 100 rare genetic disorders characterized by impaired glycosylation of proteins and lipids. The clinical presentation of CDG varies tremendously, from single-organ to multi-organ involvement and from prenatal death to a normal adult...

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Bibliographic Details
Main Authors: Manal Alaamery, Salam Massadeh, Manar Aldarwish, Nour Albesher, Nora Aljawini, Othman Alahmed, Amna Kashgari, Christopher A. Walsh, Wafaa Eyaid
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
UDP-glucose dehydrogenase
whole-exome sequencing
gene
Saudi
encephalopathy
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1294214/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1294214/full

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