Idiopathic Epilepsy Patients Research Articles

Study of Eye Movements Abnormalities in Epilepsy

ABSTRACT Idiopathic epilepsy (IE), is a group of epileptic syndromes with no structural brain lesion, but with microstructural changes in neuronal networks leading to neuropsychological consequences. Therefore, the assessment of saccadic eye movements can provide insight into the integrity of cerebral networks as it involves large cortical and subcortical brain areas and circuitries. Describe saccadic eye movement abnormalities in patients with IE and correlate them with disease characteristics and antiseizure medication. Case–control study including IE patients followed in the Neurology Department of Razi University Hospital and healthy controls matched. Participants underwent a recording of saccadic eye movements. Pursuit, prosaccade, and anti-saccade tasks were performed. 115 patients and 98 matched healthy controls were included. The gender ratio (male to female) was 0.6. The mean age at onset was 16.3 ± 12 years. Diagnosed epileptic syndromes were juvenile myoclonic epilepsy (JME), epilepsy with generalized tonic-clonic seizures, childhood absence epilepsy, temporal lobe epilepsy, frontal lobe epilepsy, and rolandic epilepsy. Saccadic eye movements were impaired in 52.2% of our patients and significantly more altered in those with JME (p = .021). Prolonged horizontal saccades latencies were the most frequent eye movement abnormalities (32.1%), followed by altered horizontal smooth pursuit (22.6%). A positive correlation was found between age at eye movements recording, age at onset, disease duration, global cognitive impairment, and saccadic eye movements. However, no definite relationship was identified. Saccadic eye movement illustrates extending anatomic alterations in IE including frontal and temporoparietal cortical areas and cortico-subcortical circuits. Eye movement recording is a useful and reproducible tool in the assessment of epileptic patients and provides a better understanding of neuronal mechanisms in epilepsy.

Plasma alpha B crystallin as potential biomarker for predicting pre-operative seizures in glioma

PurposeGlioma-associated epilepsy affects a significant proportion of glioma patients, contributing to disease progression and diminished survival rates. However, the lack of a reliable preoperative seizure predictor hampers effective surgical planning. This study investigates the potential of Alpha B crystallin protein (CRYAB) plasma levels as a predictive biomarker for epilepsy seizures in glioma patients.MethodsPlasma samples were obtained from 75 participants, including 21 glioma patients with pre-operative epilepsy, 14 glioma patients without pre-operative epilepsy, and 21 age- and sex-matched control subjects. Additionally, 11 idiopathic epilepsy patients and 8 intractable epilepsy patients served as positive disease control groups. The study utilized ELISA to accurately quantify the circulating levels of CRYAB in the plasma samples of all participants.ResultsThe analysis revealed a significant reduction in plasma CRYAB levels in glioma patients with pre-operative epilepsy and idiopathic epilepsy. The receiver operating characteristic (ROC) curve analysis displayed an impressive performance, indicating an AUC of 0.863 (95% CI, 0.810–0.916) across the entire patient cohort. Furthermore, plasma CRYAB levels exhibited a robust diagnostic capability, with an AUC of 0.9135, a sensitivity of 100.0%, and a specificity of 73.68%, effectively distinguishing glioma patients with preoperative epilepsy from those without epilepsy. The Decision Curve Analysis (DCA) underscored the clinical relevance of plasma CRYAB levels in predicting pre-operative epilepsy in glioma.ConclusionThe findings imply that the reduced levels of CRYAB may assist in prediction of seizure occurrence in glioma patients, although future large-scale prospective studies are warranted.

Assessment of serum complement level in a sample of patients of idiopathic childhood epilepsy

BackgroundThe etiology of epilepsy is still unknown in over a third of cases and a third of patients have seizures resistant to current antiseizure drugs. Most antiseizure drugs work on suppressing seizures, not targeting the underlying pathophysiological mechanisms because these mechanisms are incompletely understood. Understanding the process of epileptogenesis may lead to pathophysiology-driven drug development of more effective treatment. The aim of this study is to assess the role of the immune system in children with epilepsy, using complement as an immune marker.ResultsThe serum complement level in the cases group ranged from 1.8 to 4.5 mg/ml, with mean value 2.850 ± 0.646 mg/ml. While in the control group ranged from 2.7 to 26 mg/ml, with mean value 9.208 ± 4.805 mg/ml. The study showed a statistically significant decrease in C3 serum level in cases compared to control group with P-value < 0.001. Also, there was no statistically significant relation between seizure control and serum C3 level.ConclusionTo conclude, it was found that complement component C3 levels are significantly lower in idiopathic childhood epilepsy patients in relation to control group.

Brain Diffusion Weighted Imaging Study of Mongolian Idiopathic Epilepsy.

To evaluate the effectiveness of diffusion-weighted imaging in the assessment of idiopathic epilepsy in Mongolian. One hundred Mongolian idiopathic epilepsy patients were enrolled as the observation group and 100 healthy Mongolian volunteers as the control group. All the subjects underwent routine MRI, diffusion kurtosis imaging (DKI), and intra-voxel incoherent motion (IVIM) examination on a 3.0 T scanner. Mean kurtosis (MK), mean diffusivity (MD), fractional anisotropy (FA), true water molecular diffusion coefficient (D), mean diffusion coefficient (MD), pseudo-diffusion coefficient (D∗), and perfusion fraction (f) of each region of interest in the brain were measured. Count data were expressed as rates, and the chi-square test was performed for comparison between groups. Measurement data were first assessed by a normality test, and the t test for independent samples was performed for comparison between groups if they met the normal distribution; for non-normal distribution, the Mann-Whitney U test was performed for comparison between groups. A ROC curve analysis was performed to test the effectiveness of each parameter. MK values of the hippocampus, thalamus, and white matter of the temporal lobe in the observation group were significantly higher than those in the control group, while D and F values were significantly lower (all P < 0.05). ROC curve analysis showed that MK, D, and F values of the hippocampus, thalamus, and white matter of the temporal lobe had moderate to good diagnostic efficacy for idiopathic epilepsy (AUC = 0.617-0.749, all P < 0.001). DKI and IVIM can more accurately represent the abnormal changes of brain tissue in patients with epilepsy, and it may have important implications for the clinical diagnosis of Mongolian epileptic patients.

Clinical predictors for antiepileptic's drug response among idiopathic epilepsy patients in Sudan

Epilepsy was documented firstly by prof Daoud Mustafa (peace upon him) and prof Basheer Arbab in 1961 as a case report. This was followed by studying its clinical presentation, its pattern, treatment safety and efficacy ended with working through refractory epilepsy in tertiary center.

English

BACKGROUND Magnesium is a potential modulator of seizure activity because of its ability to antagonize the excitatory calcium influx through N-methyl-D-aspartate (NMDA) receptor which is thought to play a role in many human forms of epilepsy. When the extracellular concentration of calcium ion falls below normal, the nervous system becomes more excitable, allowing easy initiation of action potentials. Consequently, hypocalcaemia causes seizures because of its action of increasing excitability in the brain. We wanted to estimate the serum concentration of calcium and magnesium in idiopathic epilepsy patients and its co-relation. METHODS 94 cases of idiopathic epilepsy with breakthrough seizures admitted to KIMS Hospital, Hubli, meeting the inclusion criteria were considered for the study which was for 2-years’ time period. It’s a single centred, time bound and cross sectional study. RESULTS Mean serum calcium was low 8.36 ± 0.45 mg / dL and mean serum magnesium was 1.79 ± 0.28 mg / dL. 64.9 % had total serum calcium less than 8.5 mg / dL and 44.7 % had serum magnesium of &lt; 1.8 mg / dL. 35.1 % had both low calcium and magnesium. There was significant difference in mean serum calcium with respect to number of episodes. There was no significant difference in mean serum magnesium with respect to number of episodes. CONCLUSIONS Serum calcium and magnesium levels which play a role in seizure initiation should be measured in all idiopathic epilepsy patients with breakthrough seizures as a seizure trigger. Considering the role of calcium and magnesium in the pathophysiology of seizures and by evaluating the results from the present study, breakthrough seizure could be provoked by hypocalcaemia and hypomagnesemia. Hence they may be used for the treatment of intractable seizures. KEYWORDS Calcium, Magnesium, Idiopathic Epilepsy

CLINICO-SEROEPIDEMIOLOGICAL EVALUATION OF TOXOCARIASIS IN EGYPTIAN EPILEPTIC CHILDREN

Toxocariasis is one of the commonest zoonosis parasites worldwide, particularly in sheep-raisingcountries. Epilepsy is an important health problem in developing countries. The study assessed theseropositivity of toxocariasis in Egyptian idiopathic epileptic children. A case-control study was conductedon 125 children (1-18 years) with idiopathic epilepsy (patients) and 72 non-epileptic normalchildren (controls). All children underwent history taking, clinical examination, lab investigations,ELISA, and WB seropositivity to detect toxocariasis.The results showed no significant difference in age, sex, and socioeconomic level, but a significantdifference was in residence and pet dogs between patients and controls (p < 0.05). Also, the Toxocarainfection (ELISA) among patients was 41.6% versus 23.6% among controls and (Immunoblotting)17.6% versus 5.5% respectively. There was an association between toxocariasis and epilepsy, withsignificant difference between patients and controls (P<0.05). Seropositivity was more in epilepticwith generalized than partial seizures (p=0.06). As risk factors, residence and eating raw/undercookedmeat showed significant difference and pet dogs and soil contact showed a highly significant differencein toxocariasis seropositive patients (P<0.05).

The Impact of Idiopathic Generalized Epilepsy on Executive Functions.

Background: Idiopathic generalized epilepsy is defined as seizures with a possible hereditary predisposition without an underlying cause or structural pathology. Assessment of executive dysfunction in idiopathic generalized epilepsies based on standard Indian battery is not available in the literature.Aims and Objectives: To assess specific executive functions affected in patients with idiopathic epilepsy and their association with various variables.Materials and Methods: Type of observational cross-sectional study, where clinical profile of all idiopathic epilepsy patients attending the neurology OPD was studied and their executive higher mental functions were assessed using the NIMHANS battery.Results: A total of 75 idiopathic generalized epilepsy patients were included in the study. Executive functions that were commonly found abnormal in our study were word fluency (P ≤ .001), category fluency (P < .001), verbal n-back (P < .001), Tower of London (p < 0.01), and Stroop test (P < 0.01). Executive functions showed a significant correlation with age at symptom onset, duration of epilepsy, and in those with uncontrolled seizures.Conclusion: Patients of idiopathic generalized epilepsy according to the present study were found to have significant executive dysfunction in multiple domains. This necessitates the screening for executive dysfunctions, which if detected should prompt the clinician to initiate cognitive retraining.

Tramadol-associated seizures in Egypt: Epidemiological, clinical, and radiological study

BackgroundTramadol intake related seizures have emerged as a common cause of seizures in Egypt affecting mainly young men. ObjectiveThis study aimed to determine the percentage of tramadol induced seizures, and to compare the clinical, neurophysiological, and radiological features of tramadol induced seizures group with idiopathic epilepsy group. MethodsTwo phases study; at first phase, data analysis for all Kasr-Alainy epilepsy clinic patients in Cairo during the period from January 2012 through June 2014, then at second phase a group of tramadol induced seizures’ patients were compared with a matching group of idiopathic epilepsy patients. Detailed history and examination, laboratory tests, electroencephalogram (EEG), Magnetic Resonance Imaging (MRI) of the brain, and Hamilton depression rating scale (HAM-D) were performed for both groups. ResultsTramadol induced seizures represented 7% of all patients (103 out of 1480) and 12% of male patients. All cases were males. Occupational driving was the most common job. Seizures were generalized tonic clonic (GTCs) in 86%. Seventy-seven percent of tramadol induced seizures developed with toxic tramadol dose (>400 mg/day). Inter-ictal EEG was normal in most patients (87.5%). Depression and EEG abnormalities were significantly less than idiopathic epilepsy patients. MRI brain for both groups was normal. ConclusionTramadol induced seizures represented 7% of cases. This deviates the attention to the problem of tramadol addiction in Egypt and raises our awareness of tramadol induced seizures.

Effects of AQP4 and KCNJ10 Gene Polymorphisms on Drug Resistance and Seizure Susceptibility in Chinese Han Patients with Focal Epilepsy.

Background and PurposeEpilepsy is a common chronic neurological disorder. About one third of epilepsy patients will suffer from drug resistance after rational selection of antiepileptic drug treatment. The formation of drug-resistant epilepsy has quite a few causes of which genetic factors are considered to be the most important. Previous studies have suggested that the aquaporin 4(AQP4) and inward rectifier potassium ion channel Kir4.1 (encoded by gene KCNJ10) may act in concert to adjust water homeostasis and concentration of potassium ions in extracellular spaces of the central nervous system. Therefore, these two molecules would play a major role in the regulation of the excitability of neurons. In order to explore the potential mechanism of genetic factors related to AQP4 and Kir4.1, we conducted a study to analyze the effects of the AQP4 and KCNJ10 genes' single nucleotide polymorphisms (SNPs) on epileptic drug resistance and seizure susceptibility in a group of Chinese Han patients with focal epilepsy.Materials and MethodsIn total, 510 patients with focal-onset seizures and 206 healthy controls were recruited. Among the patients, 222 were drug resistant and 288 were responsive. The selection of tag SNPs was based on the Hapmap database and Haploview software. Genotyping of three loci of the AQP4 gene (rs1058424, rs3763043 and rs35931) and nine loci of the KCNJ10 gene (rs12122979, rs1186685, rs6690889, rs2486253, rs1186675, rs12402969, rs12729701, rs1890532 and rs3795339) was conducted on the Sequenom MassARRAY iPLEX platform.ResultsThe distribution of genotype and allele frequencies of selected SNP loci of AQP4 and KCNJ10 genes showed no significant difference between the drug-resistant and drug-responsive groups (p>0.05), and no significant difference between all the idiopathic focal epilepsy patients and healthy controls either.ConclusionAQP4 and KCNJ10 genetic polymorphisms may not be associated with drug resistance or seizure susceptibility of focal epilepsy in the Chinese Han population.

A comparative evaluation of bilateral hippocampus and amygdala volumes with ADC values in pediatric primary idiopathic partial epilepsy patients

Amac: Temporal nobetlerin yaklasik %70'i hipokampal nobetlerdir ve genellikle amigdala nobetleri ile birliktedir. Bu bolgede meydana gelen nobetler genellikle kompleks parsiyel nobetlerdir.Calismamizin amaci, rutin kraniyal MRG'de patolojisi olmayan 0-18 yas arasindaki idiyopatik parsiyel epilepsi hastalarinda hipokampus ve amigdala hacminde anlamli bir degisiklik olup olmadigini belirlemek ve hastalarin hipokampus ile amigdala ADC degerlerini kontrol grubu ile karsilastimali olarak degerlendirmektir. Yontemler: Yapilan olgu-kontrol calismasinda 2014 ve 2017 yillari arasinda hastanemize basvuran, 1-18 yas arasinda olup, EEG ve klinik bulgulariyla idiyopatik parsiyel epilepsi tanisi alan 27 hasta ile 20 kontrol grubu karsilastirildi. Kontrol grubu olarak, benzer yaslarda olup hastanemize bas agrisi ve bas donmesi gibi nonspesifik sikâyetlerle basvuran ve kraniyal MRG cekilen 20 cocuk degerlendirildi. Calisma ve kontrol grubunda bilinen konjenital hastalik oykusu olan, edinsel norodejeneratif hastalik geciren, intrakraniyal enfeksiyon ya da perinatal etkilenme oykusu bulunan ve intrakraniyal kitlesi olan cocuklar calismaya dâhil edilmemistir Cizimler, volumetrik olcumler ve ADC olcumleri iki ayri degerlendirici tarafindan yapildilar (Biri nororadyolog, digeri radyoloji arastirma gorevlisi). Bulgular: Kontrol grubu ile karsilastirildiginda, calisma grubunda hipokampus ve amigdala volumlerinde azalma izlenmekle beraber sonuclar sadece sol hipokampus icin anlamliydi. ADC degerlerinin karsilastirilimasinda calisma grubunun ADC degerleri kontrol grubuna kiyasla artmis olmakla birlikte bulgular sadece sol amigdala icin istatistiksel olarak anlamliydi. Sonuc: Calismamizda, idiyopatik parsiyel epilepsi tanisi alanlarda, hipokampus ve amigdala volumlerinin, nobet odagina bagli olarak ipsilateral azalmis oldugunu bulduk. Ayni zamanda, ipsilateral amigdalada ADC degerlerinde artis oldugunu bulduk.

Mitochondrial DNA analyses found five novel mutations in idiopathic epilepsy patients

Epilepsy is a common and chronic neurological disease with a high degree of genetic heterogeneity. The etiology and pathogenesis of the disease have not been fully understood. Many studies suggested that there was a reciprocal relationship between mitochondrial dysfunction and epilepsy, but few studies focused on the mitochondrial genome (mtDNA) of the epilepsy patient which was extremely important for the mitochondrial function. In our study, we obtained complete mtDNA sequences of 27 idiopathic epilepsy patients and healthy people, and compared the sequence data with 30,000 GenBank sequences including 277 Han Chinese mtDNA sequences. We analyzed each variant that might be related to disease and examined the statistically significant variant in more than 300 patients and healthy people. Ultimately, we identified 27 variants which were reported to be associated with diseases, 4 rare variants (321T > G, 15973 T > C, 3897C > A, 12580 C > T), and a nonsynonymous variant (3571 C > T) which was predicted to be damaging. Although no variant was found to be significantly associated with epilepsy, our study provided a new insight into epilepsy study on an aspect of the mitochondrial genome.

Plasma homocysteine and aminothiol levels in idiopathic epilepsy patients receiving antiepileptic drugs

Abstract Objective Homocysteine is a sulfur containing amino acid that is formed during methionine metabolism. Patients under long-term antiepileptic drug treatment often have hyperhomocysteinemia. These patients have low levels of serum folate, vitamin B12 and vitamin B6, all of which are associated with homocysteine metabolism. We have investigated the effects of valproic acid and new generation antiepileptic drugs (lamotrigine and levetiracetam) on plasma levels of homocysteine and aminothiols as well as serum vitamin B12 and folic acid. Materials and methods Forty-seven idiopathic epileptic patients on antiepileptic drugs were compared with 38 age-matched healthy controls. Commercial immunoassay methods were used for vitamin B12 and folic acid analyses. Homocysteine, cysteine, cysteinylglycine and glutathione levels were determined by high performance liquid chromatography. Results There was no significant difference in patient and control values in terms of vitamin B12, folic acid and homocysteine. Valproic acid and lamotrigine seemed to effect aminothiol redox status. Glutathione levels of epileptic patients receiving valproic acid and lamotrigine were higher than controls. Conclusion Our results suggest that redox homeostasis may be impaired and glutathione synthesis increased in response to the oxidative stress caused by antiepileptic drug use.

Valproate use and thyroid dysfunction in children with idiopathic epilepsy

Background Long-term administration of valproic acid (VPA) has side effects, including thyroid dysfunction. Subclinical hypothyroidism (SCH) identified by elevated serum thyroid stimulating hormone (TSH) concentrations with normal thyroxine (T4) and triiodothyronine (T3), or normal free thyroxine (fT4) and free triiodothyronine (fT3) has been demonstrated in idiopathic epilepsy patients receiving VPA.&#x0D; Objective To evaluate for associations between age at initiation of VPA treatment and duration of treatment with thyroid dysfunction.&#x0D; Methods A cross-sectional study was conducted from October 2012 to May 2013 in Haji Adam Malik and Pirngadi Hospitals, Medan, North Sumatera. Subjects were children ranging from 0 and below 18 years who had been diagnosed with idiopathic epilepsy. Blood specimens were taken to evaluate serum T3, T4, and TSH levels in all subjects. Data were analyzed using bivariate and multivariate analyses.&#x0D; Results A total of 49 subjects were included in the study. Age of ≤ 4 years at initiation of VPA was found to be a significant risk factor for SCH in the bivariate analysis (OR 6.67; 95%CI 1.215 to 36.594, P=0.036). Three factors had P values &lt;0.25 in the bivariate analysis and were subsequently analyzed by stepwise multivariate regression test: age at initiation of VPA, duration of treatment, and drug dosage. The VPA initiation at age &lt;4 years had 6.67 times the risk of SCH than the age of &gt;4 years (95%CI 1.215 to 36.594; P=0.029). Duration of treatment and VPA dosage were not significantly associated with SCH on multivariate analysis&#x0D; Conclusion Age ≤ 4 years old at the initiation of VPA is associated with thyroid dysfunction. However, no significant association was found between duration of treatment as well as drug dosage with thyroid dysfunction.

Psychosocial Profile and Quality of Life in Children With Type 1 Narcolepsy: A Case-Control Study.

To investigate behavioral aspects and quality of life in children and adolescents with type 1 narcolepsy (NT1). We performed a case-control study comparing 29 patients with NT1 versus sex- and age-matched patients with idiopathic epilepsy (n = 39) and healthy controls (n = 39). Behavior and quality of life were evaluated by self-administered questionnaires (Child Behavior Checklist, Pediatric Quality of Life Inventory). Patient groups were contrasted and scale results were correlated with clinical and polysomnographic parameters, and cerebrospinal fluid hypocretin-1 levels. Young patients with NT1 showed increased internalizing problems associated with aggressive behavior. Emotional profile in patients with NT1 positively correlated with age at onset, diagnostic delay, and subjective sleepiness, whereas treatment and disease duration were associated with fewer behavioral problems (attention problems, aggressive behavior, and attention deficit/hyperactivity disorder). Psychosocial health domains of pediatric NT1 were worse than in healthy controls, whereas the physical health domains were comparable. Young NT1 patients show a discrete pattern of altered behavioral, thought, and mood profile in comparison with healthy controls and with idiopathic epilepsy patients thus suggesting a direct link with sleepiness. Further studies investigating behavior in patients with idiopathic hypersomnia or type 2 narcolepsy are needed to disentangle the role of REM sleep dysfunction and hypocretin deficiency in psychiatric disorders. Symptoms of withdrawal, depression, somatic complaints, thought problems, and aggressiveness were common, NT1 children perceived lower school competencies than healthy children, and their parents also reported worse psychosocial health. Our data suggest that early effective treatment and disease self-awareness should be promoted in NT1 children for their positive effect on behavior and psychosocial health.

Risk factors for cluster seizures in canine idiopathic epilepsy

Cluster seizures (CS), two or more seizures within a 24-hour period, are reported in 38–77% of dogs with idiopathic epilepsy (IE). Negative outcomes associated with CS include a reduced likelihood of achieving seizure freedom, decreased survival time and increased likelihood of euthanasia. Previous studies have found factors including breed, sex and neuter status are associated with CS in dogs with IE; however, only one UK study in a multi-breed study of CS in IE patients exists to the author's knowledge, and thus further data is required to confirm these results. Data from 384 dogs treated at a multi-breed canine specific epilepsy clinic were retrospectively collected from electronic patient records. 384 dogs were included in the study, of which nearly half had a history of CS (49.1%). Dogs with a history of CS had a younger age at onset than those without (p=0.033). In a multivariate model, three variables predicted risk of CS: a history of status epilepticus (p=0.047), age at seizure onset (p=0.066) and breed (German Shepherd Dog) (p<0.001). Dogs with a history of status epilepticus and dogs with an older age at seizure onset were less likely to be affected by cluster seizures. German Shepherd Dogs (71% experiencing CS) were significantly more likely to suffer from CS compared to Labrador Retrievers (25%) (p<0.001). There was no association between sex, neuter status, body size and CS. Further studies into the pathophysiology and genetics of CS are required to further understand this phenomenon.

Voxel-based morphology study of idiopathic generalized epilepsy patients with typical absence seizure

Objective To observe the alterations in brain gray matter volume(GMV) in idiopathic generalized epilepsy(IGE) patients with typical absence seizure. Methods Nine IGE patients with typical absence seizure and 16 healthy volunteers were prospectively recruited from People's Hospital of Zhengzhou University from September 2012 to January 2014.By using a 3.0T magnetic resonance imaging(MRI) and voxel-based morphometry (VBM) method, their whole brain structures and their brain GMV were scanned and analyzed, respectively, then the changes in GMV were observed. Results Compared with healthy control group, brain GMV extensively decreased in IGE patients with typical absence seizure.Thirteen regions with significant differences were as follows: the right rectal gyrus(t=3.13, P<0.01), the left rectal gyrus(t=4.82, P<0.01), the right calcarine/cuneus/gyrus lingualis/occipital gyrus/inferior occipital gyrus(t=6.86, P<0.01), right gyrus lingualis(t=4.01, P<0.01), the left gyrus lingualis/inferior occipital gyrus(t=3.73, P<0.01), the left inferior occipital gyrus/gyrus lingualis(t=5.42, P<0.01), the left middle occipital gyrus(t=3.76, P<0.01), the right middle occipital gyrus/superior occipital gyrus/middle temporal gyrus(t=3.85, P<0.01), left middle temporal gyrus/superior temporal gyrus(t=5.06, P<0.01), the right precuneus/cuneus(t=3.33, P<0.01), and the right superior parietal lo-bule(t=3.66, P<0.01), right precentral gyrus(t=3.44, P<0.01), right superior frontal gyrus/paracentral lobule/supplementary motor area(t=3.50, P<0.01). However, GMV increase was not found. Conclusions Brain GMV extensively decreased in 13 brain regions of IGE patients with typical absence seizure, and among them occipital lobe is the most significant. Key words: Absence seizure; Epilepsy, generalized; Magnetic resonance imaging; Voxel-based morphology

Clinical relevance of genetic polymorphism in CYP2C9 gene to pharmacodynamics and pharmacokinetics of phenytoin in epileptic patients: validatory pharmacogenomic approach to pharmacovigilance.

Variations in drug metabolizing genes are known to have a clinical impact on AED therapy. We genotyped normal and epileptic patient cohorts of monoethnic population of Kashmir valley for CYP2C9 gene and allelic polymorphism and investigated the effect of CYP2C9*2 and *3 polymorphism on the Pharmacokinetic and therapeutic and/or adverse pharmacodynamic responses to Phenytoin in the idiopathic epilepsy patients. PCR-RFLP methods were used for genotyping of 121 normal controls and 92 idiopathic epilepsy patients for CYP2C9*2 and *3 polymorphism, the results were validated by direct sequencing. Phenytoin pharmacokinetic (PK) analysis in idiopathic epilepsy patients was done using a validated EMIT assay technique. Pharmacodynamic analysis was done by evaluating clinical response to phenytoin therapy and ADR monitoring. The respective frequencies of CYP2C9 *1, *2, and *3 alleles were 64%, 6.6%, 29.3%, and 58%, 9.8%, 32.6% in controls and idiopathic epilepsy patients from Kashmir valley. PK analysis revealed that AUC0–4 was a better surrogate biomarker of CYP2C9 metabolizer status compared to C4 and C0 concentrations alone. A comparison of “phenytoin response categories” among CYP2C9 Wild and Heterozygous groups did not reveal any significant difference between the groups (p=0.3800). CYP2C9* 3 was the most frequent mutant allele found in healthy controls and idiopathic epilepsy patients of ethnic Kashmiri population. CYP2C9 genotype based phenytoin therapy is highly relevant in Kashmiri population due to a high incidence of genetic variations associated with therapeutic and adverse responses to phenytoin. Phenytoin AUC0–4 tends to correlate better with genetic polymorphism of CYP2C9.

Vitamin D Deficiency in Children With Newly Diagnosed Idiopathic Epilepsy.

Several studies have shown a link between vitamin D deficiency and epilepsy. This study includes 60 newly diagnosed idiopathic epilepsy patients and 101 healthy controls (between the ages of 5 and 16). Each group was also divided into two subgroups according to seasonal changes in terms of months of longer versus shorter daylight. We retrospectively evaluated the levels of calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin-D3 in the study participants. Levels below 20 ng/ml were defined as vitamin D deficiency and levels of 20-30 ng/ml as insufficiency. There were no significant differences in age, gender distribution and levels of calcium, phosphorus, alkaline phosphatase and parathyroid hormone between the groups. The level of 25-OH vitamin-D3 in the patient group was significantly lower when compared to the control group (p < 0.05) (14.07 ± 8.12 and 23.38 ± 12.80 ng/ml, respectively). This difference also held true when evaluation was made according to seasonal evaluation (12.38 ± 6.53 and 17.64 ± 1.14 in shorter daylight and 18.71 ± 9.87 and 30.82 ± 1.04 in longer daylight).

Advantageous information provided by magnetoencephalography for patients with neocortical epilepsy.

We evaluated whether magnetoencephalography (MEG), in addition to surgery, was valuable for the diagnosis and management of epileptic syndromes in patients with neocortical epilepsy (NE). We studied MEG in 73 patients (29 females; aged 1-26years; mean 10.3years) for the clinical diagnosis of epilepsy and for preoperative evaluation. MEG data were recorded by 204-channel whole head gradiometers with a 600Hz sampling rate. MEG spike sources were localized on magnetic resonance images (MRI) using a single dipole model to project equivalent current dipoles. MEG localized an epileptic focus with single clustered dipoles in 24 (33%) of 73 NE patients: 16 (25%) of 64 symptomatic localization-related epilepsy (SLRE) patients and eight (89%) of nine idiopathic localization-related epilepsy (ILRE) patients. MEG provided advantageous information in 12 (50%) of 24 patients with clustered dipoles and confirmed the diagnosis in the remaining 12 (50%). Furthermore, the use of MEG resulted in changes to surgical treatments in nine (38%) patients and in medical management in eight (33%). MEG confirmed the diagnosis in eight (16%) of 49 patients with scattered dipoles. MRI identified a single lesion (28 patients, 38%), multiple lesions (5, 7%), and no lesion (40, 55%). MRI provided confirming information in 19 of 28 patients with a single lesion and 18 of them required surgical resections. MRI did not provide any supportive information in 54 (74%) patients with a single (9), multiple (5) and no lesion (40). Our study shows that MEG provides fundamental information to aid the choice of diagnostic and therapeutic procedures including changes in medication in addition to surgical treatments for NE.