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

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 review was conducted among children presented with epilepsy in one center in Saudi Arabia between 2015 and 2018.

A journey from being preterm to pediatric neurology.

This article highlights the story of two pediatric neurology residents (identical twin sisters Rana and Rawan) who work at the Division of Pediatric Neurology, Department of Pediatrics, College of Medicine and King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia. They were born in October 1990 in the same hospital (KKUH), following preterm delivery at 33 weeks. Their birth weight was 2,000 and 1,900 g, respectively.