Abstracts

Rationale: cortical dysplasia is a recognized cause of epilepsy. With increased frequencies of encounter with the use of imaging nowadays. The types and radiological findings of cortical dysplasia are well studied although their clinical variabilities not yet categorized. As well as their associations with genetic. This study has been undertaken to examine the cortical dysplasia and their genetic association in our population. Methods: 9-years retrospective chart review of patients seen and evaluated in the epilepsy-monitoring unit (EMU) since 2009. Genetic tests were done due to early onset seizures, presence of dysmorphic features, and intractability. Results: out of 98 patients who diagnosed to have focal cortical dysplasia either by high resolution MRI brain or neuropathology, 32 patients underwent genetic testing, for which 13 patients (13.2%) were found to have genetic mutations as following (del x22(n=1), PCDH19(n=2), SLC2A1(n=2), TBCE gene(n=1), PRICKLE2, SCN2A, ADGR1,PRRT2, DEL 6q16.3, NF1 gene(n=3), DEL4q21.21q21.23(n=1), most affected lobe in our patients is temporal lobe 46% (n=6) followed by frontal lobe 38%(n=5) Conclusions: the FCD genetic makeup not well established, the association varies with different etiologies. Here FCDs associated with genetic mutation that could play a role in pathogenesis. Funding: noneKFMC- King Fahad Medical City Hospital's own resources.