Role of Genetics in the Etiopathogenesis of Genetic Generalized Epilepsy: A Review of Current Literature

"Until recently; genetic generalized epilepsy (GGE) was believed to be of presumed genetic etiology with no identifiable genetic mutation or demonstrable epigenetic abnormality. A wide range of epileptic disorders has clue for an inherited susceptibility. Monogenic disorders associated with epilepsy mental retardation and structural brain lesion typified by heterotopias; tuberous sclerosis; and progressive myoclonus epilepsies account for about 1 of epilepsies. This review focuses on the role of genetic mutations and epigenetic rearrangements in the pathophysiologic mechanism of GGE. To achieve this; PubMed; EMBASE; and Google Scholar were systematically and comprehensively searched using keywords (""epilepsy"" ""juvenile myoclonic epilepsy (JME);"" ""typical absences;"" ""idiopathic generalized epilepsy;"" ""JME;"" ""juvenile absence epilepsy;"" ""childhood absence epilepsy"" ""generalized tonic-clonic seizure"" ""GTCS""). Most GGE has evidence of underlying genetic inheritance. Recent animal studies have shown that early detection and treatment of genetic generalized epilepsies can alter the phenotypic presentation in rodents. These findings suggest a critical period in epileptogenesis; during which spike-and-wave seizures can be suppressed; leading to chronic changes in the brain (epileptogenesis) and the preceding dysfunctions may; therefore; be targeted using therapeutic approaches that may either delay or inhibit the transition to active epileptic attack. The interplay between genetic mutations and epigenetic rearrangements play important roles in the development of GCE and that this process; especially at crucial developmental periods; is very susceptible to environmental modulations"

Effect of Admission Hyperglycaemia on Infarct Size and Clinical Outcome in Black Patients with Acute ISCHAEMIC Stroke, Northeast Nigeria.

Aims: To determine the relationship between admission blood glucose level, infarct size and stroke outcome in black African patients with acute ischaemic stroke. Study Design: The study was cross-sectional. Place and Duration of Study: University of Maiduguri Teaching Hospital, Northeast Nigeria, from January 2006 to January 2009. Methodology: Sixty-two patients were recruited and clinical characteristics recorded. Stroke severity was assessed using the National Institutes of Health Stroke Score(NIHSS); disability assessed using Modified Rankin score (mRS) and Barthel Activity of Daily Living (ADL) index (BI). Infarct volume was calculated from CT scan using the ‘method of measurements of the largest diameters’. Random blood glucose (RBG) was measured on admission, and dichotomised into those with hyperglycaemia > 7mmol/L those without < 7 mmol/L. Bivariate statistics were used to compare characteristics and outcome. Kaplan-Meier Statistic was used to compare mortality rates. The influence of hyperglycaemia on infarct volume and outcome was determined using logistic regression. Results: Fourteen (22.6%) patients had hyperglycaemia on admission. Those with hyperglycaemia had a larger infarct volume (P < .0001) and higher NIHSS (P = .003) on presentation. They had worse stroke outcome (Discharge BI: P = .001; NIHSS: P < 0.0001; mRS: P = .001) and higher 30-day mortality (P = .005). Admission RBG positively correlated with infarct size (P < .001), NIHSS (P = .01), mRS (P = .02) and negatively with BI (P = .02). Survival time is significant with Log Rank (P = .009) and Wilcoxon test statistics (P = .006). Hyperglycaemia predicted a larger infarct (OR = 4.46, P = < .0001), poorer NIHSS on discharge (OR = 3.44, P = .001), poorer mRS (OR = 2.53, P = .02) and 30 – day mortality (OR = 2.04, P = .046). Conclusion: Hyperglycaemia is associated with a larger infarct size, severe stroke at presentation and a worse stroke outcome.