Article
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Human genomics - 20 Dec 2022
Al Anazi Abdulrahman H, Ammar Ahmed S, Al-Hajj Mahmoud, Cyrus Cyril, Aljaafari Danah, Khoda Iname, Abdelfatah Ahmed K, Alsulaiman Abdullah A, Alanazi Firas, Alanazi Rawan, Gandla Divya, Lad Hetal, Barayan Samar, Keating Brendan J, Al-Ali Amein K
Abstract excerpt
BACKGROUND: Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity...
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