Cryptogenic Epilepsy Research Articles

Clinical outcomes among initial survivors of cryptogenic new-onset refractory status epilepsy (NORSE).

New-onset refractory status epilepticus (NORSE) is a rare but severe clinical syndrome. Despite rigorous evaluation, the underlying cause is unknown in 30%-50% of patients and treatment strategies are largely empirical. The aim of this study was to describe clinical outcomes in a cohort of well-phenotyped, thoroughly investigated patients who survived the initial phase of cryptogenic NORSE managed in specialist centers. Well-characterized cases of cryptogenic NORSE were identified through the EPIGEN and Critical Care EEG Monitoring Research Consortia (CCEMRC) during the period 2005-2019. Treating epileptologists reported on post-NORSE survival rates and sequelae in patients after discharge from hospital. Among survivors >6 months post-discharge, we report the rates and severity of active epilepsy, global disability, vocational, and global cognitive and mental health outcomes. We attempt to identify determinants of outcome. Among 48 patients who survived the acute phase of NORSE to the point of discharge from hospital, 9 had died at last follow-up, of whom 7 died within 6 months of discharge from the tertiary care center. The remaining 39 patients had high rates of active epilepsy as well as vocational, cognitive, and psychiatric comorbidities. The epilepsy was usually multifocal and typically drug resistant. Only a minority of patients had a good functional outcome. Therapeutic interventions were heterogenous during the acute phase of the illness. There was no clear relationship between the nature of treatment and clinical outcomes. Among survivors of cryptogenic NORSE, longer-term outcomes in most patients were life altering and often catastrophic. Treatment remains empirical and variable. There is a pressing need to understand the etiology of cryptogenic NORSE and to develop tailored treatment strategies.

ИСТОРИЯ И ЭВОЛЮЦИЯ МЕТОДОВ НЕЙРОВИЗУАЛИЗАЦИИ В ЭПИЛЕПТОЛОГИИ

The article examines history of fundamental discoveries, methods and clinical achievements in neuroimaging, their contribution to the development of diagnosing, treatment and understanding of epilepsy etiology, also as part of International League Against Epilepsy’s research. In the early stages of its development, neuroimaging had advanced rapidly in the areas of cancer detection, pneumoencephalography, pneumomiography, ventriculography, linear tomography and selective angiography. The development of epileptology was greatly influenced by the use of computed tomography and magnetic resonance imaging, which made it possible to identify pathological lesions in a large number of patients with cryptogenic epilepsy, expand the indications for surgical treatment and improve understanding of the pathogenesis of pathological processes in the brain associated with seizure activity. In recent years, functional magnetic resonance imaging, magnetic resonance spectroscopy, positron emission tomography and single-photon emission computed tomography have become the focus of attention of researchers, which revealed a huge number of different structural changes of the brain tissue, which lie at the basis of the formation of the epileptic focus and lead to the development of focal epilepsy.

Cognitive Impairment in MRI-Negative Epilepsy: Relationship between Neurophysiological and Neuropsychological Measures.

Epileptic patients frequently encounter cognitive impairment. Functions that are mostly affected involve memory, attention, and executive function; however, this is mainly dependent on the location of the epileptic activity. The aim of the present study is to assess cognitive functions in MRI-negative epilepsy patients by means of neurophysiological and neuropsychological measures, as well as study the concept of transient cognitive impairment in patients with epileptiform discharges during EEG acquisition. The patients were enrolled from an outpatient Epilepsy/Clinical Neurophysiology clinic over a time period of 6 months. The study sample comprised 20 MRI-negative epilepsy patients (mean age ± standard deviation (SD), 30.3 ± 12.56 years; age range, 16-60 years; average disease duration, 13.95 years) and 10 age-matched controls (mean age ± SD, 24.22 ± 15.39 years), who were also education-matched (p > 0.05). Patients with epileptogenic lesions were excluded from the study. Informed consent was obtained from all subjects involved in the study. Auditory ERPs and the cognitive screening tool EpiTrack were administered to all subjects. Latencies of P300 and slow waves were prolonged in patients compared to controls (p < 0.05). The ASM load and patients' performance in the EpiTrack maze subtest were the most significant predictors of P300 latency. A decline in the memory, attention, and speed of information processing was observed in patients with cryptogenic epilepsy compared to age-matched controls, as reflected by P300 latency and EpiTrack scores.

Teaching Neuro Images : Obstructive sleep apnea triggered by vagus nerve stimulation

A 47-year-old man with drug-resistant cryptogenic epilepsy, treated with vagus nerve stimulation (VNS), underwent polysomnography (PSG) for suspected obstructive sleep apnea (OSA). A previous PSG study, performed 1 year before VNS, had showed an apnea-hypopnea index (AHI) = 4 events/hour, but the patient reported that the activation of the VNS was associated with increase of apneas witnessed by his bed partner. PSG was consistent with mild OSA; the AHI was 14.0 events/hour. During PSG, the stimulator was active for periods of 30 seconds, generating a peculiar artifact (figure, black arrows), separated by a 3-minute interval. In 67% of the obstructive events (9.5 events/hour), the onset of the event was simultaneous or immediately followed the start of VNS activation, suggesting that VNS might trigger obstructive apneas/hypopneas1,2 (figure, white arrows).

Long-term outcomes of adult cryptogenic febrile infection-related epilepsy syndrome (FIRES).

Cryptogenic febrile infection-related epilepsy syndrome (FIRES) is a rare but catastrophic encephalopathic condition. We aimed to investigate the long-term outcome in adult cryptogenic FIRES. This was a retrospective study based on the prospective database in the neuro-intensive care unit of a tertiary hospital in China. Consecutive adult patients with cryptogenic FIRES between July 2007 to December 2021 were included. Long-term outcomes included function independence, the development of drug-resistant epilepsy (DRE), remote recurrent status epilepticus (SE), anti-seizure medications (ASMs), and changes in the brain Magnetic Resonance Imaging (MRI). A total of 11 adult patients with cryptogenic FIRES were identified from 270 patients with SE. Four (36%) patients died in the hospital, with three of them withdrawing treatments, and one patient died 12 months after discharge. After the follow-up ranging from 12 to 112 months, 6 (55%) patients were still alive, and all of them achieved functional independence [modified Rankin Scale (mRS) 0-3]. 45% (5/11) patients developed DRE, 18% (2/11) had remote recurrent SE, and 55% (6/11) were on polytherapy with ASMs at the last follow-up. Most of the patients with initial normal or abnormal MRI had abnormalities in the hippocampus at follow-up, and most of the other MRI abnormalities found in the acute stage disappeared over time. The outcome of adult cryptogenic FIRES is daunting. More than one-third of patients die in the hospital. Survivors of cryptogenic FIRES may regain functional independence, but they usually develop DRE and receive polytherapy of ASMs for a long time.

Increased prevalence of minor physical anomalies in patients with epilepsy

Our aim was to investigate the rate and topological profile of minor physical anomalies (MPAs) in adult patients with epilepsy with the use of the Méhes Scale, a comprehensive modern scale of dysmorphology. Consecutive epilepsy patients admitted for outpatient evaluation were included. Patients with comorbidities of neurodevelopmental origin (such as autism, severe intellectual disability, attention deficit hyperactivity disorder, schizophrenia, tic disorder, Tourette syndrome, bipolar disorder, specific learning disorder and specific language impairment) were excluded. All participants underwent physical examination with the use of the Méhes Scale for evaluation of MPAs, including 57 minor signs. The frequency and topological profile of MPAs were correlated to clinical patient data using Kruskal–Wallis, chi2 tests and logistic regression model. 235 patients were included, according to the following subgroups: acquired epilepsy (non-genetic, non-developmental etiology) [N = 63], temporal lobe epilepsy with hippocampal sclerosis (TLE with HS) [N = 27], epilepsy with cortical dysgenesis etiology [N = 29], cryptogenic epilepsy [N = 69] and idiopathic generalized epilepsy (IGE) [N = 47]. As controls, 30 healthy adults were recruited. The frequency of MPAs were significantly affected by the type of epilepsy [H(6) = 90.17; p < 0.001]. Pairwise comparisons showed that all patient groups except for acquired epilepsy were associated with increased frequency of MPAs (p < 0.001 in all cases). Furrowed tongue and high arched palate were more common compared to controls in all epilepsy subgroup except for TLE (p < 0.001 or p = 0.001 in all cases). A positive association was detected between the occurrence of MPAs and antiepileptic drug therapy resistance [Exp(B) = 4.19; CI 95% 1.37–12.80; p = 0.012]. MPAs are more common in patients with epilepsy, which corroborates the emerging concept of epilepsy as a neurodevelopmental disorder. Assessment of these signs may contribute to the clarification of the underlying etiology. Moreover, as increased frequency of MPAs may indicate pharmacoresistance, the identification of patients with high number of MPAs could allow evaluation for non-pharmacological treatment in time.

Risk factors and outcome of hyperammonaemia in people with epilepsy

BackgroundHyperammonaemia is a recognised complication of antiseizure treatment but risk factors leading to individual patient susceptibility and outcome remain unclear.ObjectiveTo identify risk factors for hyperammonaemia and investigate the impact of its management on clinical outcomes.MethodsWe carried out a retrospective observational study of adults with epilepsy who had ammonia tested over a 3-year period. Hyperammonaemia was defined as ammonia level > 35 μmol/L. Patients were classified into two groups: hyperammonaemic and non-hyperammonaemic. Association analyses and linear regression analysis were used to identify risk factors for hyperammonaemia.ResultsWe reviewed 1002 ammonia requests in total and identified 76 people with epilepsy who had ammonia concentration measured, including 26 with repeated measurements. 59/76 (78%) were found to have hyperammonaemia. There was borderline statistical significance of hyperammonaemia being less common in patients with an established monogenic/metabolic condition than in those with structural or cryptogenic epilepsy (P = 0.05). Drug resistance, exposure to stiripentol and oxcarbazepine were identified as risk factors for hyperammonaemia. We found a dose-dependent association between valproate and hyperammonaemia (P = 0.033). Clinical symptoms were reported in 22/59 (37%) of the hyperammonaemic group. Improved clinical outcomes with concurrent decrease in ammonia concentration were seen in 60% of patients following treatment adjustment.ConclusionsDrug resistance and exposure to stiripentol, oxcarbazepine or high-dose valproate are associated with an increased risk of hyperammonaemia. Clinicians should consider symptoms related to hyperammonaemia in patients on high-dose valproate or multiple antiseizure treatments. Prompt identification of hyperammonaemia and subsequent treatment adjustments can lead to improved clinical outcomes.

Typical absence status epilepticus in older people: syndromic delineation.

Objective We describe the clinical, electroencephalograph^ and neuroimaging findings of older patients with typical absence status epilepticus (ASE). Methods This investigation was a retrospective analysis of prospectively collected consecutive patients between January 2011 and October 2021. All patients ≥60 years with impairment of awareness and continuous generalized, rhythmic, synchronous and symmetric epileptiform discharges and normal background on video-electroencephalogram (vEEG) were included. Results Six patients were identified with a diagnosis of typical ASE. The mean age was 67 years. Five could be classified as idiopathic generalized epilepsy (IGE) though two had been erroneously categorized as cryptogenic focal epilepsy (FE). In one, the episode of ASE was thought to represent the beginning of late-onset IGE (de novo late-onset typical ASE). In all cases, ASE was controlled within the first 24 hours. Significance Typical ASE is a rare cause of confusion in the elderly population requiring urgent vEEG evaluation. It most frequently represents reactivation of a previous IGE, in effect related to patients with epilepsy with onset in childhood or adolescence, not previously diagnosed or treated, representing rather the debut of (de novo) late-onset IGE.

Comparison of decision-making under ambiguity in patients with temporal lobe and frontal lobe epilepsy

ObjectiveThe effect of the frontal lobe on cognitive functions is a subject that has been studied frequently. However, cognitive impairments that can be seen in frontal lobe epilepsy are less addressed. In previous studies on decision-making disorders in patients with epilepsy, patients with temporal lobe epilepsy (TLE) were frequently studied, and it was reported that decision-making disorders could be encountered in this patient group. In this study, we aimed to compare the decision-making performance of patients with cryptogenic frontal lobe epilepsy (FLE) and TLE in ambiguous situations. MethodsTwenty patients with TLE (mean age: 34.10 ± 11.71 years) and 20 patients with FLE (mean age: 32.25 ± 11.92 years) were enrolled in the study and their cognitive performance was compared with 20 healthy controls (mean age: 33.15 ± 13.66 years). Neuropsychological tests were performed on the participants for sleep, depression, anxiety, impulsivity, intelligence, attention, language functions, memory and learning, and frontal axis functions. Decision-making performance in ambiguous situations was studied using the Iowa Gambling Task (IGT). ResultsIowa Gambling Task performances of patients with FLE and TLE were found to be worse than in healthy controls (p = 0.049). Although there was no statistically significant difference when the decision-making of patients with TLE and FLE was compared, it was observed that patients with FLE chose higher risk cards compared with those with TLE. The performances of the neuropsychological subgroup tests of patients with TLE and FLE in attention, language functions, memory and learning, and frontal axis functions were found to be significantly worse than in healthy subjects. ConclusionDecision-making in patients with TLE and FLE in ambiguous situations is similarly impaired compared with healthy controls.

Controversial and unresolved aspects of the problem of epilepsy

Based on the analysis of a comprehensive examination of patients (clinical, neuropsychological, genetic, neuroimaging) to identify the signs that distinguish/preserve the features of cryptogenic epilepsy (CE) relative to symptomatic and generalized idiopathic epilepsy (SE and IE). 375 patients with various forms of epilepsy were examined: 231 - with SE, 66 - with IE, and 78 - with CE. All patients underwent a generally accepted clinical examination; patients were divided into two clusters: 1 cluster (to identify the distinctive features of the psychoemotional status of patients, to assess the quality of life and compare them with the severity of seizures and other indicators), 2 cluster (to determine the presence of genetic disorders in CI patients and to conduct fMRI in this group). The features of psychoemotional disorders, indicators of quality of life, genetic characteristics that distinguish CE from IE and SE are established. CE is a consequence of a combination of two main risk factors for epilepsy - 1) hereditary and 2) exogenous brain damage, but less pronounced compared to IE and CE.

Analysis of gut microbiota in patients with epilepsy treated with valproate: Results from a three months observational prospective cohort study

BackgroundGrowing evidence implicates the potential effect of microbiota on the pathogenesis and course of epilepsy. However, the effects of valproate (VPA), a broad spectrum anti-epileptic drugs, on gut microbiota have not been investigated in humans. This study aimed to analyze fecal microbiota in patients with epilepsy treated with valproate. MethodsA total of 10 participants, who were newly diagnosed of cryptogenic epilepsy with treatment naïve and received 1000 mg daily doses of VPA, were recruited in our prospective study. Microbiota compositions were evaluated at baseline and after three months of VPA treatment using 16S rDNA sequencing. ResultsVPA treatment was associated with clinical improvements in all patients, but not changes in gut microbiota richness and complexity (Shannon: p = 0.82). Microbiome composition structure differences also revealed no statistical difference in dissimilarity (Adonis: p = 0.90). No statistical difference taxa were found between two groups. However, the ratio of phyla Firmicutes to Bacteriodetes (ANOVA: p = 0.037) markedly raised after three months of VPA-treatment. A correlation matrix based on the spearman correlation distance confirmed associations between specific fecal taxa and VPA-related clinical metabolic parameters, including drug concentration in the blood, total cholesterol, triglyceride, lactate dehydrogenase, alanine aminotransferase, aspartate aminotransferase and weight gain. (p < 0.05) ConclusionsAmong those patients treated with VPA, characterization of the gut microbiota altered, and gut microbiota associated with weight gain and clinical biochemical indexes, suggesting that microbiome composition data might involve in the mechanisms of VPA induced metabolic disorder.

WS1.4. Generalized Epilep tiform Patterns – Interictal and Ictal: Defining the Clinical Syndrome

Generalised epileptiform patterns (GEPs) are bilateral and synchronous epileptiform discharges that appear over corresponding parts of both hemispheres, or the whole brain. Their morphology, amplitude and timing should be the same or similar over both hemispheres. The distinction between ictal and interictal GEPs is generally less clear compared with focal patterns. Ictal patterns often represent longer repetitions of interictal patterns. Clinical signs are more likely to be apparent during GEPs if the bursts are longer, the spike component is more persistent, and tests of responsiveness are adequately and repeatedly tested by the EEG technician. GEPs include 3Hz spike-wave discharges, polyspike-wave discharges, slow spike- wave discharges, generalised paroxysmal fast activity, electrodecremental response, photosensitive responses and ictal patterns. 3Hz spike and wave complexes are characteristic of idiopathic (genetic) generalised epilepsy, which includes childhood absence, juvenile absence and juvenile myoclonic epilepsy as well as epilepsy with generalised tonic-clonic seizures only. In children with 3Hz spike and wave, spontaneous remission is more likely if there is co-existent OIRDA and less likely if there is co-existent photoparoxysmal responses. Polyspike and wave complexes, either single or repetitive, can be seen in both idiopathic (typically in JME) and symptomatic generalised epilepsies. Slow spike and wave complexes occur at a frequency of 1.5–2.5 Hz and usually arise from an abnormal background; they, along with generalised paroxysmal fast activity (GPFA-bilaterally synchronous10–25 Hz activity) are typically seen in symptomatic and cryptogenic generalised epilepsies, notably Lennox-Gastaut syndrome. GPFA is typically seen in tonic seizures, but may also accompany atonic and generalised tonic-clonic seizures. Electrodecremental responses are seen in the atonic and tonic seizures of symptomatic and cryptogenic generalised epilepsies. Photoparoxysmal responses are bursts of generalised spike or polyspike and wave discharges that appear at certain flash frequencies and may outlast the stimulus.

Oxidative Stress in Focal Symptomatic and Cryptogenic Epilepsy in Young Patients

Objectives. To study oxidative stress in young patients with focal symptomatic and cryptogenic epilepsy and after first onset of epileptic seizures. Materials and methods. A total of 90 patients aged 19–44 years took part in the study and were divided into three groups of 30 patients after single epileptic seizures, with clinical remission for one year or more, and treatment-resistant epileptic seizures. The study also included presumptively healthy people (20 subjects) who made up the control group. Study indicators were prooxidant stress in terms of TBA-active products and antioxidant defense in terms of total plasma superoxide-scavenging activity, catalase activity, total plasma antioxidant activity, and reduced plasma thiols (SH groups). Results. No significant differences were found in the plasma TBA-active products concentration between epilepsy patients and the control group. The other study parameters (concentration of reduced SH groups, total plasma superoxide-scavenging activity, catalase activity) and total plasma antioxidant activity showed significant differences from controls. Significant between-group differences were found for a number of indicators. Conclusions. Changes in free-radical processes compared with normal were seen after first seizures and persisted in refractory epilepsy and in clinical remission. Given that measures of the activity of the antioxidant defense system showed significant differences between different groups of epilepsy patients, it can be suggested that different components of oxidative stress are activated after first epileptic seizures and in different courses of epilepsy.

Congenital hypoparathyroidism misdiagnosed as infantile seizure

The occurrence of seizure in children is a common neurologic dysfunction and finding the underlying aetiology is critically important as it determines the prognosis and outcome of the seizure and also guides therapeutic strategies. Parathyroid hormone (PTH) plays key role in the complex controlling mechanisms regulating calcium and phosphate balance. An insufficient circulating PTH level is a common cause of hypocalcaemia. A 3-months-old infant was referred to our endocrine unit with recurrent seizures, body stiffness, noisy breathing and bilateral cataract. He was previously been diagnosed as epilepsy in a syndromic child. Biochemical investigation revealed hypoparathyroidism, brain MRI was suggestive of decrease myelination for age, EEG revealed normal study, and a diagnosis of congenital hypoparathyroidism was confirmed. After calcium and vitamin D replacement, the infant improved and was seizure free off antiepileptic therapy. This case therefore explores an unusual case of seizure disorder. It further highlights the fact that not all epilepsies are cryptogenic or genetic epilepsy, therefore treatable acute symptomatic etiologies should be adequately searched.

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

BackgroundLeber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mutation carriers include smoking, heavy intake of alcohol, raised intraocular pressure, and some drugs, including several carbonic anhydrase inhibitors. The antiepileptic drug sulthiame (STM) is effective especially in focal seizures, particularly in benign epilepsy of childhood with centrotemporal spikes, and widely used in pediatric epileptology. STM is a sulfonamide derivate and an inhibitor of mammalian carbonic anhydrase isoforms I–XIV.ResultsWe describe two unrelated patients, an 8-year-old girl and an 11-year-old boy, with cryptogenic focal epilepsy, who suffered binocular (subject #1) or monocular (subject #2) visual loss in close temporal connection with starting antiepileptic pharmacotherapy with STM. In both subjects, visual loss was due to LHON. We used real-time respirometry in fibroblasts derived from LHON patients carrying the same mitochondrial mutations as our two subjects to investigate the effect of STM on oxidative phosphorylation. Oxygen consumption rate in fibroblasts from a healthy control was not impaired by STM compared with a vehicle control. In contrast, fibroblasts carrying the m.14484T>C or the m.3460G>A LHON mutation displayed a drastic reduction of the respiration rate when treated with STM compared to vehicle control.ConclusionsOur observations point to a causal relationship between STM treatment and onset or worsening of visual failure in two subjects with LHON rather than pure coincidence. We conclude that antiepileptic medication with STM may pose a risk for visual loss in LHON mutation carriers and should be avoided in these patients.

Prevalence of Seizure/Epilepsy in Patients with Multiple Sclerosis: A Systematic Review and Meta-Analysis.

Background:Seizure and epilepsy are among the initial symptoms of multiple sclerosis (MS), yet different prevalence rates are reported for them in the previous studies. The goal of this systematic review is to estimate the pooled prevalence of seizure and epilepsy in patients with MS.Methods:We searched PubMed, Scopus, EMBASE, Web of Science, google scholar, and gray literature including references from identified studies and conference abstracts published up to October 2019. The search strategy included the MeSH terms and text words as ((Epilepsies OR Seizure Disorder OR Seizure Disorders OR Awakening Epilepsy OR Epilepsy, Awakening OR Epilepsy, Cryptogenic OR Cryptogenic Epilepsies OR Cryptogenic Epilepsy OR Epilepsies, Cryptogenic OR epilepsy OR seizure) AND (Multiple Sclerosis OR Sclerosis, Multiple) OR Sclerosis, Disseminated) OR Disseminated Sclerosis) OR MS (Multiple Sclerosis)) OR Multiple Sclerosis, Acute Fulminating).Results:The literature review resulted in 4860 articles; 2593 articles remained after eliminating the duplicates. For the final analysis, 39 articles were included, 9 of which were conference abstracts. The pooled prevalence of seizure in MS cases was 2%, 95% confidence interval (CI)(1%-3%) (I2 = 91.8%, P < 0.001). The pooled prevalence of epilepsy in MS cases was 3%, 95% CI (2%-4%) (I2 = 92.9%, P < 0.001). The pooled prevalence of epilepsy in Asia, Europe, and America was 6%, 3%, and 3%, respectively. The level of heterogeneity decreased after subgroup analysis in Asian and American subgroups. Meta-regression analysis showed continent is not a source of heterogeneity (coefficient = -0.007, P = 0.6).ConclusionsThe result of this systematic review shows that the pooled prevalence of seizure and epilepsy among MS patients is 2% and 3%, respectively.

Modulation of mRNA Expression of Monoacylglycerol Lipase, Diacylglycerol Lipase and Cannabinoid Receptor-1 in Mice Experimentally Infected with T. gondii.

Toxoplasma gondii, an obligate intracellular parasite, infects more than 30% of world's population. This parasite is considered to be neurotropic, and has high tropism for the central nervous system, and potentially induces cryptogenic epilepsy by no clear mechanism. The current study aimed to investigate the alteration of the main components of the endocannabinoid signaling systems in T. gondii-infected mice. For this purpose, the levels of mRNA expression of monoacylglycerol lipase (MAGL), diacylglycerol lipase (DAGL) and cannabinoid receptor-1 (CB1), were measured by quantitative real time PCR.The mRNA expression level of MAGL was increased by ~ 8-fold in the brains of the Toxoplasma-infected group in comparison with non-infected mice (P<0.0001). The mRNA expression of CB1 gene in the brain of the infected mice was ~ 2 times higher than that measured in control group (P<0.01). The mRNA expression level of DAGL remained unchanged in the infected mice. Overall a substantial increase in MAGL and CB1 expression without any changes in DAGL, in the brain of infected mice suggests that T. gondii disturbs the endocannabinoid signaling pathways, which are known as neurotransmitter modulators involved in epilepsy.

Demographic and Clinical Characteristics of Epilepsy in Childhood: A Prospective Cross Sectional Study from Sudan

Background: Epilepsy is a common neurological disorder affecting around 1% of children. The incidence in Sudan is likely to be higher given the high rate of genetic disorders related to consanguity and acquired disorders caused by CNS infection and birth injury. Epilepsy can be idiopathic or non-idiopathic, symptomatic epilepsy indicates a known cause while cryptogenic epilepsy implies a presumed unknown cause. Objective: To understand the demographic and clinical characteristics of epilepsy in children in the setting of a tertiary epilepsy clinic in Khartoum, Sudan. Methods: This is a hospital-based cross sectional study recruiting patients with epilepsy attending a tertiary pediatric neurology clinic. All patients attending the clinic in the 6 month period were included. Data was collected by medical students and was analyzed on IBM SPSS Version 20.0 in a descriptive fashion. Results: 284 Children were recruited. The mean age for children with epilepsy was 5.74 (range 0-12 Years). Females constituted 59.9%; while 94.7% of patients were of low socioeconomic status. The most common type of seizures found were generalized tonic clinic at 51.8% (147/284), followed by focal seizures at 21.1% (60/284). 71% of our patients (201/284) had no identifiable cause (idiopathic), while 29% were non-idiopathic. Of the non-idiopathic group; 41% were due to congenital anomalies, followed by HIE at 24.1%, infections at 16.9% trauma at 10.8% and tumors at 7.2%. Only 18.3% (52/284) had a positive family history of epilepsy. Conclusions: There appears to be a higher incidence of epilepsy in Children with low socio – economic status with a slight female predominance. The incidence of idiopathic epilepsy appears to be similar to inter-national figures. We recommend broader community based and long-term studies for better understanding of epilepsy in Sudan.

Palmar Dermatoglyphics and Idiopathic Epilepsy – A Systematic Review

Dermatoglyphics is the science which deals with the study of dermal ridge configuration on the digits, palmsand soles. Etymologically this term is harmonious blend of two words Derma – skin; Glyphe – carve. It givesthe impression that something has been carved out of the skin. The entire human body is clothed with theskin which happens to be the largest and most important organ of the body. However, the skin on the ventralsides of the hands and the plantar sides of feet is exclusively designed and is corrugated with the ridgesand configurations which are functionally useful as they help in the grasping without which the objectswould easily slip away from the hands. Dermatoglyphic traits are genetically determined. Dermatoglyphicabnormalities are due to genetic or other factors that express their effect before the end of 5th month of foetaldevelopment. The permanency of finger patterns, the extreme variability from one individual to the otherand easy analysis are some of the reasons for its wide application in a variety of conditions. Abnormality inthe genetic configurations of parents is inherited by children and is reflected in the dermatoglyphic pattern.Hence dermatoglyphic study proves to be a very useful, easily applicable, inexpensive, indispensable toolas an indicator in the diagnosis of hereditary diseases in patients. The etiology of the epilepsies allows aclassification of syndrome features into two groups – idiopathic or cryptogenic epilepsy, which has isolatedprimary symptoms without apparent cause and is probably hereditary and finger print configurations areinherited with an embryonic origin common to nervous system. Their attractions indicate pleiotropic effectsof the genotype responsible for enaphalographic irregularity and convulsive seizures.

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms.

Epilepsy is a neurological disease with different clinical forms and inter-individuals heterogeneity, which may be associated with genetic and/or epigenetic polymorphisms of tandem-repeated noncoding DNA. These polymorphisms may serve as predictive biomarkers of various forms of epilepsy. ACAP3 is the protein regulating morphogenesis of neurons and neuronal migration and is an integral component of important signaling pathways. This study aimed to carry out an association analysis of the length polymorphism and DNA methylation of the UPS29 minisatellite of the ACAP3 gene in patients with epilepsy. We revealed an association of short UPS29 alleles with increased risk of development of symptomatic and cryptogenic epilepsy in women, and also with cerebrovascular pathologies, structural changes in the brain, neurological status, and the clinical pattern of seizures in both women and men. The increase of frequency of hypomethylated UPS29 alleles in men with symptomatic epilepsy, and in women with both symptomatic and cryptogenic epilepsy was observed. For patients with hypomethylated UPS29 alleles, we also observed structural changes in the brain, neurological status, and the clinical pattern of seizures. These associations had sex-specific nature similar to a genetic association. In contrast with length polymorphism epigenetic changes affected predominantly the long UPS29 allele. We suppose that genetic and epigenetic alterations UPS29 can modify ACAP3 expression and thereby affect the development and clinical course of epilepsy.