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Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity. It is often accompanied by electroencephalography (EEG) changes, such as long-lasting slow waves and occasional spikes, primarily over the frontal lobes, as well as focal seizures with visual hallucinations, cognitive impairment, and behavioral problems. Although clinical suspicion, typical EEG abnormalities, and network disorders revealed by functional neuroimaging method aid in diagnosis, karyotyping remains essential. Seizures are typically drug-resistant although some limited success has been reported with certain anti-seizure drugs. In this report, we present the case of a patient with previously frequent drug-resistant NCSE periods characterized by prolonged confusional states and frightening visual hallucinations. Treatment with lacosamide partially decreased the frequency of seizures. In addition, positron emission tomography/computed tomography (PET/CT) imaging revealed hypometabolism in the frontal and parietal regions of the brain. In patients with drug-resistant and early frightening hallucinations, consideration of the ring 20 chromosome anomaly is crucial. PET/CT imaging may demonstrate hypometabolism in the parietal and frontal lobes, potentially associated with the hallucinations and epileptogenesis of the syndrome. Lacosamide may be a viable option for reducing seizures in Ring chromosome 20 syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Pediatric epilepsy surgery is an effective treatment modality for patients with drug-resistant epilepsy (DRE). Early pediatric surgery yields favorable results for DRE in terms of seizure control and neurophysiological outcome. In this study, pediatric patients were categorized based on their age (above 3 years old and below 3 years old) to demonstrate the effectiveness and safety of surgical procedures. Methods: In this retrospective, single-center study, 60 pediatric patients who underwent epilepsy surgery at Istanbul Faculty of Medicine between 2002 and 2018 were evaluated. Overall morbidity and mortality rates, as well as seizure outcomes of the patients, were assessed and compared based on two age groups: those aged 3 years old or younger and those older than 3 years old. The effectiveness of invasive monitoring was also evaluated in relation to pathological results. The postoperative seizure outcome rates were evaluated using Engel's classification, with an average follow-up period of 8.7 years. Results: Out of the total number of patients, 47 (78.4%) underwent resective surgery, while 13 (21.6%) had palliative surgery. Ten patients (16.6%) had invasive monitoring. Among all patients, 34 were classified as Engel I and II (56.6%), while 26 were classified as Engel III and IV (43.4%) postoperatively. 47% of patients who were under 3 years old, 60.4% of patients who were over 3 years old, and 50% of patients who underwent invasive monitoring had a favorable seizure outcome (Engel I–II). Postoperative morbidity and mortality rates were 35% (n = 21) and 1.6% (n = 1), respectively. Conclusion: Pediatric epilepsy surgery is an important treatment modality for preserving cognitive abilities and providing effective treatment for pediatric DRE. In our study, we claim that both invasive monitoring and epilepsy surgery lead to favorable seizure outcomes for all age groups. Further clinical studies should be conducted to provide more reliable data on the safety and effectiveness of the surgery, particularly in patients under the age of three. [ABSTRACT FROM AUTHOR]

Variations in the PRRT2 gene have been shown to cause a variety of diseases, including benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD). Next-generation sequencing techniques have allowed the broadening of this disease spectrum. In this study, we aimed to present patients with epilepsy who were shown to have PRRT2 variants in our clinic. The characteristics of 13 patients with epilepsy, including two families with PRRT2 variants and one patient with a sporadic homozygous variant, were reviewed by screening the epilepsy archive. P.R217Pfs∗8 variation was detected in patients of our first family with both BFIE and PKD diseases. This family was included in the article in which this gene was first described in 2012. In the first generation there were 3 patients with BFIE, in the second generation there were 2 patients with BFIE-PKD and one patient with BFIE. The second family had only BFIE. In this family, the c.604_607del (p.Ser202HisfsTer26) variation was detected in the PRRT2 gene in the index case. In this phenotypically homogeneous family, BFIE was present in all 3 generations. Although the seizures remitted, electroencephalography abnormalities continued for 2 years in our index case. Migration of the epileptogenic focus to the posterior of the hemispheres over time is an interesting observation. Our sporadic case was a patient with a diagnosis of juvenile absence epilepsy, and a homozygous c.67G>A;p.(Glu23Lys) variant was detected in this patient. Findings in PRRT2-associated epilepsy patients show the importance of next-generation sequencing techniques. It indicates that different epilepsy phenotypes can be seen in variations associated with a single gene. With better recognition of epilepsy associated with PRRT2 gene variants, which are considered as synaptopathy, it will be possible to switch from current symptomatic treatments to therapeutic options targeting specific pathophysiological changes. [ABSTRACT FROM AUTHOR]

Objective: The present study was aimed at investigating the effects of anti‐seizure medications (ASMs), patient demographic characteristics, and the seizure type and frequency on the development of congenital malformations (CMs) in the infants of pregnant women with epilepsy (PWWE). Methods: PWWE followed up at the neurology outpatient clinic of 21 centers between 2014 and 2019 were included in this prospective study. The follow‐up of PWWE was conducted using structured, general pregnant follow‐up forms prepared by the Pregnancy and Epilepsy Study Committee. The newborns were examined by a neonatologist after delivery and at 1 and 3 months postpartum. Results: Of the infants of 759 PWWE, 7.2% had CMs, with 5.6% having major CMs. Polytherapy, monotherapy, and no medications were received by 168 (22.1%), 548 (72.2 %), and 43 (5.7 %) patients, respectively. CMs were detected at an incidence of 2.3% in infants of PWWE who did not receive medication, 5.7% in infants of PWWE who received monotherapy, and 13.7% in infants of PWWE who received polytherapy. The risk of malformation was 2.31‐fold (95% confidence interval (CI): 1.48–4.61, p <.001) higher in infants of PWWE who received polytherapy. Levetiracetam was the most frequently used seizure medication as monotherapy, with the highest incidence of CMs occurring with valproic acid (VPA) use (8.5%) and the lowest with lamotrigine use (2.1%). The incidence of CMs was 5% at a carbamazepine dose <700 mg, 10% at a carbamazepine dose ≥700 mg, 5.5% at a VPA dose <750 mg, and 14.8% at a VPA dose ≥750 mg. Thus the risk of malformation increased 2.33 times (p =.041) in infants of PWWE receiving high‐dose ASMs. Significance: Birth outcomes of PWWE receiving and not receiving ASMs were evaluated. The risk of CMs occurrence was higher, particularly in infants of PWWE using VPA and receiving polytherapy. The incidence of CMs was found to be lower in infants of PWWE receiving lamotrigine. [ABSTRACT FROM AUTHOR]

Neurodevelopmental disorders (NDDs) have broad heterogeneity both clinically and genetically. Inborn errors of metabolism can be one of the reasons of neurodevelopmental disruption causing specific NDDs. Although there is tremendous advance in molecular identification via next-generation sequencing (NGS), there are still many unsolved patients with NDD. Reanalysis of NGS data with different pipelines can at least partially accomplish this challenge. Herein, we report clinic and genetic components of an adult sib-pair with an undiagnosed NDD condition, which has been solved through reanalysis of whole-exome sequencing (WES). Parallel analysis of SNP-based genotyping and WES was performed to focus on variants only in loci with positive logarithm of the odds scores. WES data was analyzed through three different pipelines with two distinct bed files. Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in the affected sib-pair. Surprisingly, the variant could not be detected in the first analysis as the variant region is not included in the first bed file which may frequently be used. Biochemical tests of CSF have confirmed the genetic analysis, CSF folic acid levels were detected low in sib-pair, and intravenous folinic acid treatment improved the disease course for the first 6 months of follow-up even at late diagnosis age. Although combined analysis of SNP-based genotyping and WES is a powerful tool to reveal the genetic components of heterogeneous diseases, reanalysis of genome data still should be considered in unsolved patients. Also, biochemical screening helps us to decipher undiagnosed NDD that may be a treatable neurometabolic condition. [ABSTRACT FROM AUTHOR]

Sepsis-associated encephalopathy (SAE) is a common manifestation of sepsis that may lead to cognitive decline. Our aim was to investigate whether the neurofilament light chain (NFL) and soluble triggering receptor expressed on myeloid cells 2 (sTREM2) could be utilized as prognostic biomarkers in SAE. In this prospective observational study, baseline serum levels of sTREM2 and cerebrospinal fluid (CSF) levels of sTREM2 and NFL were measured by ELISA in 11 SAE patients and controls. Patients underwent daily neurological examination. Brain magnetic resonance imaging (MRI) and standard electroencephalography (EEG) were performed. Cognitive dysfunction was longitudinally assessed after discharge in 4 SAE patients using the Mini-Mental State Examination (MMSE) and Addenbrooke's Cognitive Examination-Revised (ACE-R) tests. SAE patients showed higher CSF sTREM2 and NFL levels than controls. sTREM2 and NFL levels were not correlated with the severity measures of sepsis. Three months after discharge, 2 SAE patients displayed ACE-R scores congruent with mild cognitive impairment (MCI), persisting in one patient 12 months after discharge. SAE patients with MCI showed higher CSF NFL levels, bacteremia, and abnormal brain MRI. Patients with increased serum/CSF sTREM2 levels showed trends towards displaying poorer attention/orientation and visuo-spatial skills. sTREM2 and NFL levels may serve as a prognostic biomarker for cognitive decline in SAE. These results lend further support for the involvement of glial activation and neuroaxonal degeneration in the physiopathology of SAE. [ABSTRACT FROM AUTHOR]

Objective: The long-term course of neuropsychiatric, cognitive, and behavioral symptoms that develop after encephalitis has not been studied adequately. We aimed to investigate the progression of these symptoms in a case series of patients followed up after encephalitis. Method: Patients were evaluated through neurological and psychiatric assessments, as well as cranial magnetic resonance imaging and electroencephalography recordings at the baseline. Neuropsychiatric outcomes were assessed using the Mini-Mental State Examination (MMSE), Frontal Behavior Inventory (FBI), Hamilton Depression Rating Scale (HDRS), Neuropsychiatric Inventory (NPI), Katz Activities of Daily Living (Katz ADL) Index Scale, and Lawton Instrumental Activities of Daily Living (IADL) Scale. Results: A total of 15 patients were evaluated at the baseline and 10 of them had a follow-up assessment after a median of 60 months. The patients with active epilepsy had worse Katz ADL scores than those with complete seizure control. MMSE scores were negatively correlated with FBI and ADL + IADL scores. While MMSE scores did not change significantly in the follow-up assessment, there was a decrease in FBI, HDRS, and NPI scores, as well as an improvement in ADL + IADL scores. Conclusion: Our case series suggest that complete seizure control, high MMSE scores, and absence of frontal behavioral symptoms are associated with less dependence on others in activities of daily living after encephalitis. The overall cognitive status of patients who recovered from encephalitis was unchanged in the long term. However, patients demonstrated improvements in neuropsychiatric and behavioral symptoms, such as disinhibition, and better daily functioning with time. [ABSTRACT FROM AUTHOR]

Developmental and Epileptic Encephalopathies (DEEs) are a group of early-onset syndromic disorders characterized by varying degree of intellectual disability, autism spectrum, seizures, and developmental delay. Herein, we have clinically and genetically dissected three siblings from Turkey with DEE born to first cousin unaffected parents. We identified a homozygous pathogenic variant in ELP2 (ENST00000358232.11:c.1385G>A; p.(Arg462Gln)). Our results, together with in depth literature review, underlie the importance of codon encoding the arginine at position 462 as a hotspot for ELP2 related neurological phenotypes. [ABSTRACT FROM AUTHOR]

The rise of overweight and obesity across all age groups can be considered as an epidemic. A high body mass index not only has effects on longevity and quality of life of people who suffer from it but also has cognitive and neurological consequences. Executive function (EF)—or the neural regions that support it might act as causes of obesity. The aim of this study is to compare the differences between healthy and obese/overweight individuals and to understand how a prolonged diet of 2 months can affect EF event‐related potential (ERP) components. Among the ERP metrics, N1, N2, and P3 are measured. Subjects underwent a diet program and their electroencephalogram was recorded every 4–6 weeks using a Stroop paradigm experiment. As the diet progressed, it was observed that perhaps more neural networks and executive control are engaged as the diet begins to take effect. Attention to nonfood increases and more control is exhibited when participants are presented with food images and food word stimuli. Increase in the N2 and P3 components highlight how the diet affects the brain during various stages of diet plans. [ABSTRACT FROM AUTHOR]

Background: Sepsis-associated encephalopathy (SAE) is frequently encountered in sepsis and is often accompanied by neuroimaging findings indicating ischemia, hemorrhage, and edema. Posterior reversible encephalopathy syndrome (PRES) has been vastly underrecognized in previously reported cohorts of patients with sepsis and SAE. Our aim was to determine the prevalence and distinguishing clinical, neuroimaging, and electroencephalography features of PRES in SAE.Methods: In this prospective observational study, patients with radiologically identified PRES were selected from a consecutively enrolled cohort of 156 patients with SAE and assessed for neurological outcome using the extended Glasgow Outcome Scale for 12 months. Patients with SAE and PRES and other types of brain lesions were compared in terms of clinical and diagnostic workup features.Results: Fourteen of 156 patients (8.9%) were determined to be radiologically compatible with PRES, whereas 48 patients displayed other types of acute brain lesions. Patients with PRES often showed lesions in atypical regions, including frontal lobes, the corpus callosum, and the basal ganglia. Source of infection was mostly gram-negative bacteria originating from pneumonia or intraabdominal infections. Patients with PRES were not different from other patients with SAE with brain lesions in terms of features of sepsis and neurological outcome. However, patients with PRES showed increased prevalence of seizures and intraabdominal source of infection.Conclusions: PRES is highly prevalent in SAE, often encompasses unusual brain regions, and usually presents with generalized seizures. Patients with SAE and PRES do not appear to have distinguishing clinical and diagnostic workup features. However, generalized seizures may serve as warning signs for presence of PRES in patients with SAE. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to examine perioperative changes and correlation of electroencephalography (EEG), neuropsychological test (NPT), and neurobiochemical markers in patients undergoing carotid endarterectomy. Patients and methods: A total of 48 patients (28 males, 20 females; mean age: 68.4±7.7 years; range, 43 to 84 years) who underwent carotid endarterectomy in our clinic between January 2017 and March 2019 were included in the study. Basic activity, slow-wave, and paroxysmal activities were evaluated using the pre- and postoperative EEG. The S100B protein (S100B), neuron-specific enolase (NSE), and glial fibrillary acidic protein (GFAP) values from biochemical markers were studied in all patients in the preoperative period, postoperative early period (Day 2), and postoperative late period. The NPT was examined preoperatively and at one month postoperatively. Results: The EEG examination of 30 patients revealed a decrease in the slow-wave frequency and amplitude in the EEG of 10 patients without ischemia in the preoperative magnetic resonance imaging examination. The S100B and GFAP values decreased and the NSE values increased statistically significantly in the late postoperative period, although there was no statistically significant difference between the NSE, S100B, and GFAP values in the early postoperative period before and after carotid endarterectomy operation. Conclusion: The positive effects of carotid endarterectomy on EEG in the patient group without ischemia can be interpreted as the electrophysiological evidence and that possible functional damage associated with carotid stenosis can be improved after endarterectomy. The values of biochemical markers decreased in the late postoperative period with the limitation of inflammation and NSE increased, which may be associated with neuronal regeneration. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi is the property of Istanbul Tip Fakultesi Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A > G variant affecting a splice site in SLC7A6OS. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. Quantitative reverse transcriptase polymerase chain reaction and Western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A > G variant, consistent with a distant ancestor common to both families. Our results suggest that biallelic loss‐of‐function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy. ANN NEUROL 2021;89:402–407 [ABSTRACT FROM AUTHOR]

Copyright of Archives of Epilepsy is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Archives of Epilepsy is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi is the property of Istanbul Tip Fakultesi Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background and purpose: Focal epilepsy of unknown cause (FEUC) is an under-investigated topic despite its remarkable frequency. We aimed to report the long-term follow-up findings along with the drug-response, 5 year remission rates and diagnostic changes to give an insight about the heterogeneous characteristics of FEUC. Methods: Demographic, clinical, neurophysiological and imaging data of 196 patients diagnosed as FEUC according to ILAE criteria, with a minimum 5-year follow-up were evaluated in a tertiary epilepsy center. The drug resistance, 5 years of remission and relapse rates were investigated and the subgroups were compared statistically. Results: The rate of drug resistance was 21.8% and status epilepticus (p < 0.001), abnormal neurological examination (p = 0.020), seizure onset before 10 years (p = 0.004) and a high initial seizure frequency (p = 0.006) were significant predictors of drug resistance. The rates of terminal 5-year remission, 5-year remission ever and relapse were 39.9%, 44.26% and 24.04%, respectively. There were 13 patients (6.6%) with a changed final diagnosis. Drug resistance (p = 0.004), pathological EEG (p = 0.034) and status epilepticus (p = 0.021) were negative variables for achieving remission. The lobar localization of seizures was not a predictor of remission or relapse. Onset after 10 years of age had a higher probability of achieving a 5-year remission according to Kaplan–Meier curves (p < 0.001). Conclusions: Focal epilepsy of unknown cause has a benign electroclinical subgroup with favorable long-term course, lower drug resistance and higher 5 years of terminal remission and remission ever rates, when appropriately treated. Our findings might be valuable in terms of counseling and management of patients with FEUC at the first referral to epilepsy clinics. [ABSTRACT FROM AUTHOR]

Objective: Acute brain dysfunction is common in sepsis patients and is associated with increased mortality. This study aimed to investigate the clinical and electroencephalographic (EEG) findings of patients with acute neurological dysfunction due to sepsis and to evaluate their relationship with prognosis. Methods: Sixty-one patients with sepsis were included in this prospective observational study. All patients underwent a daily neurological examination. EEG monitoring was performed in patients with delirium, coma, clinical seizures, and focal neurological findings. The patients were divided into two groups as survivors and non-survivors. Results: Sixty-one patients included in the study had a median age of 60 years (range=21 to 81), Acute Physiology and Chronic Health Evaluation 2 score of 24 (range=14 to 39), and Sepsis-related Organ Failure Assessment score of 10 (range=3 to 24). During the EEG examination, coma was detected in 23 patients (38%), delirium/confusion in 20 patients (33%), clinical seizures in 16 patients (26%) and focal neurological findings in two patients (3%). The overall mortality rate was 42% (n=26). The EEG examination showed slowing of background activity in all patients. Also, among three patients who had seizure activity, two showed findings of an electrophysiological seizure. The EEG examination revealed a relationship between low-amplitude non-reactive background activity and mortality. Conclusion: EEG monitoring may be indicated in the follow-up of encephalopathy in sepsis, the determination of the severity of the disease, the presence of an accompanying seizure or status, and prognosis. [ABSTRACT FROM AUTHOR]

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Sudden unexplained death in epilepsy (SUDEP) is a devastating complication of epilepsy which was under-recognized in the recent past despite its clear importance. In this review, we examine the definition of SUDEP, revise current pathophysiological theories, discuss risk factors and preventative measures, disclose tools for appraising the SUDEP risk, and last but not least dwell upon announcing and explaining the SUDEP risk to the patients and their caretakers. We aim to aid the clinicians in their responsibility of knowing SUDEP, explaining the SUDEP risk to their patients in a reasonable and sensible way and whenever possible, preventing SUDEP. Future studies are definitely needed to increase scientific knowledge and awareness related to this prioritized topic with malign consequences. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Neurology / Turk Noroloji Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Context: Seizures and accompanying situations including social, medical, and psychiatric problems threaten the quality of life (QOL) in patients with epilepsy. The World Health Organization defines health is a state of complete physical, mental, and social well-being, and not merely the absence of disease or infirmity. Aims: This study examines the prevalence of both depression and anxiety symptoms and also impact of the affective state on QOL in patients with focal epilepsy in Turkey. Settings and Design: One hundred and five patients with focal epilepsy over 18 years old were included in this study. The patients were classified into four groups according to the presence of AS and seizure control. Subjects and Methods: Patients' affective symptoms (AS) and QOL were examined using the Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and QOL in Epilepsy Inventory-31 (QOLIE-31). Statistical Analysis Used: We used descriptive statistics, Chi-square test, independent samples t-test, one-way analysis of variance, Mann–Whitney U-test, Kruskal–Wallis H-test, and also Pearson's and Spearman's correlation test for correlations. Results: There were positive correlations between total QOLIE-31 score and epilepsy surgery, employment, and seizure freedom, whereas negative correlations were found with antiepileptic drug use, anxiety, and depression. Statistically significant differences were found in QOLIE-31 totals and subscores between Groups 3 and 4 (P < 0.05). Conclusions: The presence of AS has a negative impact on QOL in patients with focal epilepsy. Physicians should be aware that psychiatric comorbidities in epilepsy have a severe impact and epilepsy treatment requires comprehensive management. [ABSTRACT FROM AUTHOR]

Objective: Our aim is to assess the types and frequency of seizure-related injuries and to determine their effects on Quality of Life (QoL).Methods: Fifty-seven patients with epilepsy were included to our study. The demographic and clinical data of all the participants were recorded. All patients completed the Quality of Life in Epilepsy Inventory 89 (QOLIE-89). Injury types were classified as burns, head trauma, dental traumas, fractures, body injuries, penetrating traumas, road injuries, and drowning.Results: Forty-two patients had seizure-related physical injury history whereas 15 of them declared no history of injury. Lower education levels and more frequent seizures were associated with higher seizure-related injury rates (p < 0.05). The most common types of seizure-related injuries were head trauma (22%) and fractures (17%). Fifty-seven (64%)of the injuries took place at home. There was no difference in QOLIE-89 scores between patients with or without seizure-related injury. Multiple injuries, admission to emergency, older than 20 years of the first seizure-related injury, and shorter than 10 years after last seizure-related injury are negatively effective on the QoL scores.Conclusion: Patients with epilepsy are likely to have seizure-related injuries which may be severe but do not affect the patients' QoL. Seizure-related injuries most commonly occur at home and therefore simple precautions (supervised bathing, using microwave ovens instead of classical stoves, avoiding electric irons and electric heaters, and sleeping close to the floor to avoid falling) taken to reduce the incidence of seizure-related injuries will help reduce hospitalizations and will also be cost-effective. [ABSTRACT FROM AUTHOR]

Genetic generalized epilepsies (GGE) are genetically determined, as their name implies and they are clinically characterized by generalized seizures involving both sides of the brain in the absence of detectable brain lesions or other known causes. GGEs are yet complex and are influenced by many different genetic and environmental factors. Methylation specific epigenetic marks are one of the players of the complex epileptogenesis scenario leading to GGE. In this study, we have set out to perform genome-wide methylation profiling to analyze GGE trios each consisting of an affected parent-offspring couple along with an unaffected parent. We have developed a novel scoring scheme within trios to categorize each locus analyzed as hypo or hypermethylated. This stringent approach classified differentially methylated genes in each trio and helped us to produce trio specific and pooled gene lists with inherited and aberrant methylation levels. In order to analyze the methylation differences from a boarder perspective, we performed enrichment analysis with these lists using the PANOGA software. This collective effort has led us to detect pathways associated with the GGE phenotype, including the neurotrophin signaling pathway. We have demonstrated a trio based approach to genome-wide DNA methylation analysis that identified individual and possibly minor changes in methylation marks that could be involved in epileptogenesis leading to GGE. [ABSTRACT FROM AUTHOR]

High-frequency oscillations in local field potentials recorded with intracranial EEG are putative biomarkers of seizure onset zones in epileptic brain. However, localized 80-500 Hz oscillations can also be recorded from normal and non-epileptic cerebral structures. When defined only by rate or frequency, physiological high-frequency oscillations are indistinguishable from pathological ones, which limit their application in epilepsy presurgical planning. We hypothesized that pathological high-frequency oscillations occur in a repetitive fashion with a similar waveform morphology that specifically indicates seizure onset zones. We investigated the waveform patterns of automatically detected high-frequency oscillations in 13 epilepsy patients and five control subjects, with an average of 73 subdural and intracerebral electrodes recorded per patient. The repetitive oscillatory waveforms were identified by using a pipeline of unsupervised machine learning techniques and were then correlated with independently clinician-defined seizure onset zones. Consistently in all patients, the stereotypical high-frequency oscillations with the highest degree of waveform similarity were localized within the seizure onset zones only, whereas the channels generating high-frequency oscillations embedded in random waveforms were found in the functional regions independent from the epileptogenic locations. The repetitive waveform pattern was more evident in fast ripples compared to ripples, suggesting a potential association between waveform repetition and the underlying pathological network. Our findings provided a new tool for the interpretation of pathological high-frequency oscillations that can be efficiently applied to distinguish seizure onset zones from functionally important sites, which is a critical step towards the translation of these signature events into valid clinical biomarkers.awx374media15721572971001. [ABSTRACT FROM AUTHOR]

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods: This is a retrospective study of malformations in children born to mothers currently followed up by our outpatient clinics who used or discontinued AED during their pregnancy. Their children were then investigated using echocardiography, urinary ultrasound, cranial magnetic resonance image, and examined by geneticists and pediatric dentists. Results: One hundred and seventeen children were included in the study. Ninety one of these children were exposed to AED during pregnancy. The most commonly used AED were valproic acid and carbamazepine in monotherapy. The percentage of major anomaly was 6.8% in all children. Dysmorphic features and dental anomalies were observed more in children exposed especially to valproic acid. There were 26 mothers with two and four mothers with three pregnancies from the same fathers. No correlation was found between the distribution of malformations in recurring pregnancies and AED usage. Conclusion: Our study has the highest number of dysmorphism examined in literature, found in all the children exposed to valproic acid, which may account for the higher rate of facial dysmorphism and dental anomalies. On lower doses of valproic acid, major malformations are not seen, although the risk increases with polytherapy. Our data also indicate possible effects of genetic and environmental factors on malformations. [ABSTRACT FROM AUTHOR]

Introduction: Recent studies showed that hippocampal sclerosis (HS) patients with unilateral involvement had more diffuse cognitive impairment than expected. Therefore, we aimed to compare the cognitive profiles of bilateral HS (BHS) patients with unilateral HS (UHS) patients. Methods: Consecutive patients, diagnosed with epilepsy, who fulfilled two major magnetic resonance imaging (MRI) criteria (Tl atrophy and T2-FLAIR hyperintensity) for HS were included. Standard neuro-psychological test (NPT) battery consisted of the Turkish version of 15-word verbal memory processes test, Wechsler memory scale visual reproduction subtest, forward and backward digit span, phonemic and semantic fluency, and Stroop test were applied; and the groups with right HS, left HS, and bilateral HS were compared statistically. Results: Ninety-one patients, completing the NPT (34 males, 57 females)-l6 with BHS, 36 with right HS, and 39 with left HS-were included. Six out of 43 operated patients had BHS. There were no significant differences in education and handedness of the groups. Even though NPT performances of the BHS group were found to be poor compared to UHS subgroups, this was beyond statistical significance. Comparison of BHS with the right HS group showed a significant difference in the learning score of the Verbal Memory Processes Test, but recognition scores were found to be similar in all groups. Compared to the BHS group, both right and left HS groups revealed a significant difference in delayed recall score of the Verbal Memory Processes Test. Although there were no significant differences in the postoperative parameters of the BHS group, UHS subgroups had deficits in many postoperative parameters. Conclusion: Our study revealed that bilateral involvement of the hippocampi was correlated with a poor cognitive performance. Retrieval failure, rather than a total recall problem, in the memory of the patients resembles a more diffuse involvement not only limited to limbic structures. [ABSTRACT FROM AUTHOR]

Objective: Our aim was to investigate the prevalence of neuronal autoantibodies (NAbs) in a large consecutive series with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) and to elucidate the clinical and laboratory clues for detection of NAbs in this prototype of frequent, drug-resistant epilepsy syndrome.Methods: Consecutive patients diagnosed with MTLE fulfilling the MRI criteria for HS were enrolled. The sera of patients and various control groups (80 subjects) were tested for eight NAbs after ethical approval and signed consents. Brain tissues obtained from surgical specimens were also investigated by immunohistochemical analysis for the presence of inflammatory infiltrates. The features of seropositive versus seronegative groups were compared and binary logistic regression analysis was performed to explore the differentiating variables.Results: We found antibodies against antigens, contactin-associated protein-like 2 in 11 patients, uncharacterised voltage-gated potassium channel (VGKC)-complex antigens in four patients, glycine receptor (GLY-R) in 5 patients, N-methyl-d-aspartate receptor in 4 patients and γ-aminobutyric acid receptor A in 1 patient of 111 patients with MTLE-HS and none of the control subjects. The history of status epilepticus, diagnosis of psychosis and positron emission tomography or single-photon emission CT findings in temporal plus extratemporal regions were found significantly more frequently in the seropositive group. Binary logistic regression analysis disclosed that status epilepticus, psychosis and cognitive dysfunction were statistically significant variables to differentiate between the VGKC-complex subgroup versus seronegative group.Conclusions: This first systematic screening study of various NAbs showed 22.5% seropositivity belonging mostly to VGKC-complex antibodies in a large consecutive series of patients with MTLE-HS. Our results indicated a VGKC-complex autoimmunity-related subgroup in the syndrome of MTLE-HS. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Neurology / Turk Noroloji Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkish Journal of Neurology / Turk Noroloji Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Diffusion tensor imaging (DTI) allows in vivo structural brain mapping and detection of microstructural disruption of white matter (WM). One of the commonly used parameters for grading the anisotropic diffusivity in WM is fractional anisotropy (FA). FA value helps to quantify the directionality of the local tract bundle. Therefore, FA images are being used in voxelwise statistical analyses (VSA). The present study used Tract-Based Spatial Statistics (TBSS) of FA images across subjects, and computes the mean skeleton map to detect voxelwise knowledge of the tracts yielding to groupwise comparison. The skeleton image illustrates WM structure and shows any changes caused by brain damage. The microstructure of WM in thalamic stroke is investigated, and the VSA results of healthy control and thalamic stroke patients are reported. It has been shown that several skeleton regions were affected subject to the presence of thalamic stroke (FWE, p < 0.05). Furthermore the correlation of quantitative EEG (qEEG) scores and neurophysiological tests with the FA skeleton for the entire test group is also investigated. We compared measurements that are related to the same fibers across subjects, and discussed implications for VSA of WM in thalamic stroke cases, for the relationship between behavioral tests and FA skeletons, and for the correlation between the FA maps and qEEG scores.Results obtained through the regression analyses did not exceed the corrected statistical threshold values for multiple comparisons (uncorrected, p < 0.05). However, in the regression analysis of FA values and the theta band activity of EEG, cingulum bundle and corpus callosum were found to be related. These areas are parts of the Default Mode Network (DMN) where DMN is known to be involved in resting state EEG theta activity. The relation between the EEG alpha band power values and FA values of the skeleton was found to support the cortico-thalamocortical cycles for both subject groups. Further, the neurophysiological tests including Benton Face Recognition (BFR), Digit Span test (DST), Warrington Topographic Memory test (WTMT), California Verbal Learning test (CVLT) has been regressed with the FA skeleton maps for both subject groups. Our results corresponding to DST task were found to be similar with previously reported findings for working memory and episodic memory tasks. For the WTMT, FA values of the cingulum (right) that plays a role in memory process was found to be related with the behavioral responses. Splenium of corpus callosum was found to be correlated for both subject groups for the BFR. [ABSTRACT FROM AUTHOR]

Autonomic dysfunction has frequently been reported in autoimmune encephalitis associated with seizures and there is growing evidence that epilepsy patients may display neuronal autoantibodies (NAAb). The aim of this study was to investigate the frequency of NAAb in epilepsy patients with peri-ictal autonomic findings. Fifty-eight patients (37 women/21 men; average age of 34.2 ± 9.9 years and epilepsy duration of 19.1 ± 9.6 years) who had at least one video-EEG recorded focal or secondary generalized seizure with clear-cut documented peri-ictal autonomic findings, or consistently reported seizures with autonomic semiology, were included. NAAb were tested by RIA or cell based assays. NAAb were present in 17 of 58 (29.3 %) patients. Among seropositive patients, antibodies were directed against N-methyl- d-aspartate receptor (NMDAR) in 5 (29 %), contactin-associated protein-like 2 (CASPR2) in 5 (29 %), uncharacterized voltage gated potassium channel (VGKC)-complex antigens in 3 (18 %), glutamic acid decarboxylase (GAD) in 2 (12 %), glycine receptor (GLYR) in one (6 %) and type A gamma aminobutyric acid receptor (GABAR) in one patient (6 %). Peri-ictal gastrointestinal manifestations, piloerection, ictal fever, urinary urge, and cough occurred more commonly in the seropositive group. The prevalences of psychotic attacks and status epilepticus were significantly increased in the seropositive group. Seropositivity prevalence in our patient group with peri-ictal autonomic findings is higher than other previously reported epilepsy cohorts. In our study, ictal fever-VGKC-complex antibody and pilomotor seizure-GABAR antibody associations were documented for the first time. Chronic epilepsy patients with peri-ictal autonomic semiology, history of status epilepticus and psychotic disorder may benefit from autoantibody screening. [ABSTRACT FROM AUTHOR]

Epilepsy, with an average frequency of 1% in the population, is a common neurological condition characterized by spontaneous recurrent seizures. Epilepsies can be categorized as generalized or partial depending on the extent of the brain region involved. Hot water epilepsies (HWE) comprise an interesting class of partial epilepsies that occur when hot water is poured over the head. HWEs also belong to the reflex epilepsy group, in which a certain trigger or stimulus brings on seizures. HWE is a rare condition and its etiopathogenesis has not been clearly elucidated yet. Our study aims to reveal the genetic factors contributing to HWE. 10 patients, whose clinical evaluations had been performed by the Istanbul University Faculty of Medicine, Department of Neurology were included in this study. The blood derived DNA was subjected to whole exome sequencing (WES) and analyzed by our in house sequencing pipeline. Rare variants in epilepsy related genes were prioritized. One variant in sodium channel gene SCN2A (NM_001040142.2:c.463A>G) and two variants in SCN9A (NM_001365536.1:c.3391G>T and NM_001365536:1:c.164C>T) were detected in three unrelated individuals. All three identified variants cause missense variation and have not been previously reported in the literature. The variants determined within the scope of the study reside on genes that encode subunits of sodium channels that may be involved in channelopathies. It is speculated that disruptions in the sodium-potassium ATPase channel may be related to the molecular etiopathogenesis of the disease. The analysis of the patients for novel genes and copy number variations are ongoing. [ABSTRACT FROM AUTHOR]