The multi‐subunit eEF1 complex plays a crucial role in de novo protein synthesis. The
central functional component of the complex is eEF1A, which occurs as two independently …

Saudi Genome program is a revolutionary nationwide transformation initiative of Saudi
Vision 2030. The program goals are to recognize and reduce the incidence of genetic …

Members of the neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and
neurexin 3 (NRXN3) encode important components of synaptic function implicated in autism …

Background: Heterozygous, large-scale deletions at 14q24. 3-31.1 affecting the neurexin-3
gene have been associated with neurodevelopmental disorders such as autism. Both “de …

Monocyte locomotion inhibitory factor (MLIF), a heat-stable pentapeptide, has been shown
to exert potent anti-inflammatory effects in ischemic brain injury. In this study, we …

Objective To evaluate the diagnostic yield of microarray analysis in a hospital‐based cohort
of children with seizures and to identify novel candidate genes and susceptibility loci for …

Epilepsy is a serious and common neurological disorder. Expression quantitative loci
(eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci …

Interstitial deletions involving the long arm of chromosome 14 are rare conditions that
associate facial dysmorphism, neurological features such as seizures, motor and cognitive …

Background Epilepsy is genetically complex but common brain disorder of the world
affecting millions of people with almost of all age groups. Novel Copy number variations …

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 …