Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital

• Main Authors: Fahad A. Bashiri (Author), Rawan AlSheikh (Author), Muddathir H. Hamad (Author), Hamad Alsheikh (Author), Rana Abdullah Alsheikh (Author), Amal Kentab (Author), Najd AlTheeb (Author), Malak Alghamdi (Author)
• Format: Book
• Published: MDPI AG, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations. Methods: A retrospective chart r...