Abstracts

Rationale: In clinical genetics, a consanguineous marriage is defined as a union between couples related as second cousins or closer. Saudi Arabia has a higher consanguinity rates than western countries. Consanguinity was not found to increase the risk of idiopathic or cryptogenic epilepsy in recent studies from Saudi Arabia and the United Arab of Emirates. Mesial temporal sclerosis (MTS) is the most common pathology found in patients with intractable focal epilepsy, yet the etiology of MTS remains unclear. A familial type of MTS has been described with homogenous and heterogeneous clinical manifestations. We aimed to determine if there is an association between consanguinity and MTS in a Saudi population. Methods: A retrospective case control study was conducted by looking at the prevalence of consanguinity in patients with pathologically proven MTS, who underwent epilepsy surgery at King Faisal Specialist Hospital and Research Center in Jeddah, Saudi Arabia between January 2004 and December 2015. We reviewed the paper and electronic medical records to extract the data. Collected data included age, gender, duration of epilepsy, history of febrile seizure, family history of epilepsy in a first or second-degree relative, neuroimaging findings, and pathology reports. Only cases with complete data were included. The case ratio of the control group to the study group was approximately 1:2. Odds ratio was used for risk estimation. Results: A total of 29 patients (58%, male) with MTS and 60 controls (56%, male) with cryptogenic epilepsy were identified. Fifteen patients (51%) in the MTS group have a history of consanguinity with the vast majority as first cousins (86%). While in the control group 17 patients (28%) have a history of consanguinity with 82% of those were first cousins. The odds ratio (OR) was 1.82 (95% CI = 0.8-4.2) and p= 0.15. The family history of epilepsy (1st and 2nd degree) was found in 34% of the patients with MTS and 28% of the patients with cryptogenic epilepsy. Only 5 patients (17%) with MTS reported a history of febrile seizure. Conclusions: This retrospective case-control study suggests that consanguinity is associated with a modest increase in the risk for mesial temporal sclerosis. Larger cohort studies are needed to confirm these results. Funding: None