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 for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees.
Results
We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed.
Conclusion
Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.
Schwannoma's of considerable size arising from the trigeminal nerve are very rare. Here, a case of a large right-sided parasellar mass diagnosed as a trigeminal schwannoma is reported. Complete resection of the tumor was successfully achieved. The patient had an excellent postoperative course.
Intraparenchymal schwannomas are very rare tumors. We present a unique case of intracerebral schwannoma. We report a deep parietal peiventricular intraparenchymal schwannoma in a young adult patient with a history of slowly progressive hemiparesis. Magnetic resonance imaging scan revealed a round-shaped mass lesion in the right parietal periventricular area exhibiting low signal intensity in T1-weighted images and high signal intensity in T2-weighted images, and showed extensive perilesional edema. The lesion showed ring enhancement post gadolinium. It is important to recognize and distinguish a schwannoma from other more common brain tumors as the outcome is good and recurrence is rare.
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