Publications by authors named "Nerses Bebek"

92 Publications

SURGICAL TREATMENT IN REFRACTORY EPILEPSY: SEIZURE OUTCOME RESULTS BASED ON INVASIVE EEG MONITORIZATION.

Turk Neurosurg 2021 May 21. Epub 2021 May 21.

University of Health Sciences Gaziosmanpasa Training and Research Hospital.

Aim: Epilepsy surgery is an effective treatment in patients suffering from refractory epilepsy. In this study, the aim is to discuss seizure outcomes of patients, who had had invasive EEG monitorization (IEM), following their epilepsy surgery at our centre.

Material And Methods: Forty-seven patients suffering from refractory epilepsy and who were evaluated by invasive EEG were included in this retrospective study at Istanbul Faculty of Medicine from 2003 to 2017. We examined the Video EEG and invasive EEG monitorization, cranial MRI, SPECT, PET and neuropsychological tests of all patients. Moreover, postoperative seizure outcome results were evaluated according to Engel classification. The factors affecting seizure outcome were discussed.

Results: Twenty-six of the patients were female (55.3%), 21 were male (44.7). The average age were 32.0 (±12.4). Forty-three patients had surgery and the average age of these patients was 26,6 (±11,15). 38.3% of the patients had hippocampal sclerosis (HS), 23.4% had focal cortical dysplasia (FCD), 8.5% had tumor, 14.9% had sequela lesion and 14.9% had unknown etiology. Postoperative seizure status according to the Engel classification showed that 81.6% of the patients were class I, 10.5% were class II, 2,6% were class III and 5,3% were class IV.

Conclusion: A significant relation was statistically determined between structural MRI lesion and favorable seizure outcome (p 0.05). The most frequent etiology was HS in our patients. Of the patients with Engel I, the averages of their ages, ages at onset of epilepsy and ages at surgery were lower than other groups; but the difference was not statistically significant (p 0.05). We argue that IEM is an essential examination for favorable outcome for the determination of epileptogenic zone and/or the proximity of the functional structures.
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http://dx.doi.org/10.5137/1019-5149.JTN.32796-20.2DOI Listing
May 2021

Let there be light: Inhibitory effect of photic stimulation on spike frequency in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Epilepsy Res 2021 Oct 27;176:106734. Epub 2021 Jul 27.

Istanbul University, Istanbul Faculty of Medicine, Neurology - Clinical Neurophysiology Department, Istanbul, Turkey.

Inhibition of epileptic discharges and seizures by sensory stimuli is an interesting phenomenon, but highly understudied. Here, we aimed to investigate the modulation of epileptiform discharges in patients with mesial temporal lobe epilepsy associated with hippocampal sclerosis (MTLE-HS) via photic stimulation (PS), based on a hypothesis that light stimulation may activate thalamocortical networks limiting the propagation of interictal epileptiform discharges. In order to do so, all EEGs performed in patients diagnosed with MTLE-HS were reviewed to include available recordings with definite epileptiform abnormalities. These were reevaluated by two clinical neurophysiologists independently, and spikes were counted in a blinded manner to calculate spike index (SI) (spikes per minute-pm) for baseline EEG, hyperventilation (HV), and PS periods. Our final study group consisted of 30 MTLE-HS patients with a mean age of 34.5 (±12.5) years. Mean seizure frequency was 38.1 per year (±46.6), and the mean disease duration was 16.2 years (±12.1). Mean SI during baseline was calculated as 1.17 pm (±1.4), during HV 2.1 pm (±2.8) and during PS 0.8 pm (±2.5). As a result, SI was significantly lower during PS compared to baseline (p = 0.001). Our findings suggest that PS has a remarkable inhibitory effect on epileptiform discharges in MTLE-HS patients, indicating the need for further prospective investigations for clinical translation.
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http://dx.doi.org/10.1016/j.eplepsyres.2021.106734DOI Listing
October 2021

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

J Hum Genet 2021 Dec 11;66(12):1145-1151. Epub 2021 Jun 11.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is generally accepted as having a homogenous clinical course with no considerable differences between EPM2A or NHLRC1 associated forms. Nevertheless, late-onset and slow progressing forms of the disease have also been reported. Herein, we have performed clinical and genetic analyses of 14 LD patients from 12 different families and identified 8 distinct biallelic variations in these patients. Five of these variations were novel and/or associated with the LD phenotype for the first time. Interestingly, almost half of the cases were homozygous for the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in NHLRC1. A less severe phenotype with an onset at a later age may be the reason for the biased inflation of this variant, which is already present in the human gene pool and can hence arise in the homozygous form in populations with increased parental consanguinity.
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http://dx.doi.org/10.1038/s10038-021-00944-8DOI Listing
December 2021

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Neurology 2021 08 2;97(6):e577-e586. Epub 2021 Jun 2.

From IRCCS Istituto Giannina Gaslini (A.A., M.S., M.I., A.R., B.C., P.S., S.B., V.D.S., C.M., F.Z., P.S.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) (A.A., M.S., P.S., V.D.S., C.M., F.Z., P.S.), University of Genoa, Italy; Neuropediatrics Section of the Department of Pediatrics (G.W.), Asklepios Clinic Hamburg Nord-Heidberg, Hamburg; Department of Pediatric and Adolescent Medicine II (Neuropediatrics, Social Pediatrics) (G.W.), University Medical Centre Schleswig-Holstein, Kiel, Germany; Department of Neurosciences (C.C., C.D.L.), Pediatric Neurology Unit, Tor Vergata University, Roma; Human Genetics (L.C., F. Brancati), Department of Life, Health, and Environmental Sciences, and Department of Pediatrics (A.V.), University of L'Aquila; Child Neuropsychiatry Unit (V.B.), Department of Mental Health, ASST-LARIANA, Como; Medical Genetics Unit (P.P.), "S. Maria della Misericordia" Hospital, Perugia, Italy; Department of Pediatric Neurology (A.F.-J.), Hospital Universitario Quirónsalud and Universidad Europea de Madrid, Madrid, Spain; Istanbul University Istanbul Faculty of Medicine (N.B.), Department of Neurology, Turkey; Department of Biomedicine and Prevention (G.N.), Tor Vergata University of Rome; IRCCS Neuromed (G.N.), Pozzilli, Italy; Department of Pharmacology (G.N.), School of Medicine, University of Nevada, Reno; Department of Pediatrics (C.v.S.), University Hospital Munich, Germany; Paracelsus Medical University (C.v.S.), Salzburg, Austria; Epilepsy Center for Children and Adolescents (F.K., G.J.K.), Vogtareuth, Germany; Department of Neuropediatrics (G.C.W., G.R.), University Children's Hospital Zurich, Switzerland; Translational and Clinical Research Institute (D.L.-S., R.H.T., M.L.), Newcastle University; Department of Clinical Neurosciences (D.L.-S., R.H.T., M.L.), Newcastle Upon Tyne Hospitals National Health Service Foundation Trust, UK; Epilepsy Center (S.S.), Federico II University, Napoli, Italy; Institute of Human Genetics (C.D.), University Hospital Essen, University of Duisburg-Essen, Essen, Germany; Institut du Cerveau et de la Moelle épinière (ICM) (C.D.), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France; Center for Synaptic Neuroscience and Technology (F.Benfenati), Istituto Italiano di Tecnologia; IRCCS Ospedale Policlinico San Martino (F. Benfenati), Genoa; and Human Functional Genomics (F. Brancati), IRCCS San Raffaele Pisana, Rome, Italy.

Objective: To describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, a rare form of reflex epilepsy.

Methods: We investigated by Sanger and targeted resequencing the gene in 12 individuals from 10 different families presenting with seizures triggered primarily by bathing or showering. An additional 12 individuals with hot-water epilepsy were also screened.

Results: In all families with bathing epilepsy, we identified 8 distinct pathogenic or likely pathogenic variants and 2 variants of unknown significance in , 9 of which are novel. Conversely, none of the individuals with hot-water epilepsy displayed variants. In mutated individuals, seizures were typically triggered by showering or bathing regardless of the water temperature. Additional triggers included fingernail clipping, haircutting, or watching someone take a shower. Unprovoked seizures and a variable degree of developmental delay were also common.

Conclusion: Bathing epilepsy is genetically distinct reflex epilepsy caused mainly by mutations.
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http://dx.doi.org/10.1212/WNL.0000000000012298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424500PMC
August 2021

Predictors of successful valproate withdrawal in women with epilepsy.

Epilepsy Behav 2021 06 3;119:107980. Epub 2021 May 3.

Istanbul University, Istanbul Faculty of Medicine, Departments of Neurology and Clinica Neurophysiology, Istanbul, Turkey.

Objective: Valproate (VPA) use was restricted due to its teratogenic risks in women with epilepsy (WWE). We aimed to assess the outcome and predictors of treatment decisions of withdrawal/switch or continuation of VPA in WWE.

Methods: We included 214 consecutive WWE with a follow-up time of 9.57 ± 7.04 years, who have used (n = 142) or are still using VPA (n = 72) during their reproductive ages. The demographic, clinical, and electroencephalography (EEG) properties of WWE who could withdraw (successful withdrawal; n = 142) and could not withdraw VPA (unsuccessful withdrawal; n = 36) were compared statistically.

Results: The main reasons for still using VPA were high risk of seizure recurrence (63.9%), cognitive impairment (27.8%), and no pregnancy prospect (8.3%). In the successful withdrawal group, 67 (47.1%) patients maintained remission after VPA withdrawal and 26 of them (38.8%) had relapse during the follow-up. The rate of side effects related to the new drugs (levetiracetam and lamotrigine) was 52/142 (36.6%). The unsuccessful withdrawal rate was 13.9% in focal epilepsy whereas it was 86.1% in generalized epilepsy (p = 0.002). Co-occurrence of three types of seizures and anti-seizure medication (ASM)-resistance was related to unsuccessful withdrawal in genetic generalized epilepsy (GGE) (p = 0.02 for both).

Conclusions: Although women with focal epilepsies are more ASM-resistant and more likely to have continuing seizures, they do not usually deteriorate after VPA discontinuation, therefore posing them to teratogenic risk is often unnecessary. In GGE, certain predictors such as previous ASM-resistance and the presence of three seizure types must be taken into account, before a withdrawal attempt of VPA treatment.
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http://dx.doi.org/10.1016/j.yebeh.2021.107980DOI Listing
June 2021

Elevated sTREM2 and NFL levels in patients with sepsis associated encephalopathy.

Int J Neurosci 2021 May 4:1-7. Epub 2021 May 4.

Department of Neuroscience, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Purpose: 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.

Materials And Methods: 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.

Results: 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.

Conclusions: 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.
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http://dx.doi.org/10.1080/00207454.2021.1916489DOI Listing
May 2021

Different faces of frontal lobe epilepsy: The clinical, electrophysiologic, and imaging experience of a tertiary center.

Clin Neurol Neurosurg 2021 Apr 8;203:106532. Epub 2021 Feb 8.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey. Electronic address:

Objective: Frontal lobe epilepsy (FLE) is the second most common epilepsy among drug-resistant focal epilepsies. Semiologic and electrophysiologic features of FLE present some difficulties because frontal lobe seizures are brief, accompanied by complex motor activities and emotional signs. The rich connectivity of the frontal lobe with other areas leads to the rapid and widespread propagation of seizure activity, which contribute to the difficulty of evaluating the semiologic and EEG patterns of the seizure. In this study, we investigated semiologic, interictal, ictal, and postictal EEG characteristics; the imaging data of patients with FLE and the possible contribution of these data to localization and lateralization of seizures.

Materials And Methods: The medical records of patients who were diagnosed as having FLE between 2010 and 2019 in our clinic were evaluated retrospectively. The diagnosis of FLE was considered either when patients had a structural lesion in the frontal region or seizure semiology and EEG characteristics were compatible with FLE. Clinical, electrophysiologic, and imaging features were investigated in these patients.

Results: We have evaluated 146 seizures in 36 patients (17 lesional and 19 non-lesional according to MRI). There were 110 focal motor or nonmotor seizures, 18 bilateral tonic-clonic seizures, and 18 subclinical seizures. There were 16 patients with aura. The most common semiologic feature was hyperkinetic movements. Among the interictal EEGs, 30.5 % included focal anomalies. Among the ictal EEGs, 69.1 % were non-localizing or lateralizing. The most common ictal pattern was rhythmic theta activity (21.2 %). In four patients, who had non-localizing or lateralizing EEG, the postictal EEG was informative. Our study showed a low percentage of localized FDG-PET, which, however, involved visual analysis.

Conclusion: Our results support the previously known difficulties in the determination of the epileptogenic zone of FLE. Semiologic and electrophysiologic correlation studies, longer postictal records, and quantitative analysis of FDG-PET may contribute to a better characterization of the disease.
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http://dx.doi.org/10.1016/j.clineuro.2021.106532DOI Listing
April 2021

Functional connectivity disturbances of ascending reticular activating system and posterior thalamus in juvenile myoclonic epilepsy in relation with photosensitivity: A resting-state fMRI study.

Epilepsy Res 2021 03 3;171:106569. Epub 2021 Feb 3.

Departments of Neurology and Clinical Neurophysiology, Istanbul University, Istanbul Faculty of Medicine, Millet Cad, 34093, Istanbul, Turkey. Electronic address:

Objective: Juvenile myoclonic epilepsy (JME) is typified by the occurrence of myoclonic seizures after awakening, though another common trait is myoclonic seizures triggered by photic stimulation. We aimed to investigate the functional connectivity (FC) of nuclei in the ascending reticular activating system (ARAS), thalamus and visual cortex in JME with and without photosensitivity.

Methods: We examined 29 patients with JME (16 photosensitive (PS), 13 non- photosensitive-(NPS)) and 28 healthy controls (HCs) using resting-state functional magnetic resonance imaging (rs-fMRI). Seed-to-voxel FC analyses were performed using 25 seeds, including the thalamus, visual cortex, and ARAS nuclei.

Results: Mesencephalic reticular formation seed revealed significant hyperconnectivity between the bilateral paracingulate gyrus and anterior cingulate cortex in JME group, and in both JME-PS and JME-NPS subgroups compared to HCs (p < 0.001; p- < 0.001; p- = 0.002, respectively). Locus coeruleus seed displayed significant hyperconnectivity with the bilateral lingual gyri, intracalcarine cortices, occipital poles and left occipital fusiform gyrus in JME-PS group compared to HCs (p <0.001). Additionally, locus coeruleus seed showed significant hyperconnectivity in JME-PS group compared to JME-NPS group with a cluster corresponding to the bilateral lingual gyri and right intracalcarine cortex (p < 0.001). Lastly, the right posterior nuclei of thalamus revealed significant hyperconnectivity with the right superior lateral occipital cortex in JME-PS group compared to HCs (p < 0.002).

Conclusions: In JME, altered functional connectivity of the arousal networks might contribute to the understanding of myoclonia after awakening, whereas increased connectivity of posterior thalamus might explain photosensitivity.
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http://dx.doi.org/10.1016/j.eplepsyres.2021.106569DOI Listing
March 2021

The effect of a seminar on medical students' information acquisition of and attitudes toward epilepsy.

Epilepsy Behav 2021 03 21;116:107720. Epub 2021 Jan 21.

Istanbul University, Istanbul Medical Faculty, Department of Neurology, Istanbul, Turkey; Istanbul University Epilepsy Research Center, Istanbul, Turkey.

Aim: The aim of the present study was to investigate the effect of a brief seminar focusing on medical and social aspects of epilepsy on information acquisition of and attitudes toward epilepsy among medical school students.

Method: The sample of this pretest-posttest study consisted of 57 fifth-grade medical students. The students participated in a one-hour seminar including medical and social aspects of epilepsy. An epilepsy-related awareness form developed by researchers and also the Epilepsy Attitude Scale were applied to the participants before and after the seminar.

Results: It was determined that half of the students (50.9%) encountered an epileptic seizure and 12.3% of them applied first aid. The students had difficulty in describing the seizure type before education. Before education, the rate of describing the seizure was 47.4% for myoclonic seizure, 50.9% for simple partial seizure, and 64.9% for absence seizure, and after education, these rates increased to 82.5% (p < 0.001), 91.2% (p < 0.001), and 98.2% (p < 0.001), respectively. Students generally well described the seizure triggering factors; however, the rate of students reporting the menstrual period as triggering factors were lower (66.7%), and the rates increased after the education (93.0%) (p = 0.001). The percentages of correct answers increased also for the questions regarding seizure first aid. The percentage of students who felt competent for seizure first-aid management increased from 12.3% to 91.2% (p < 0.001) after the education. The correct response rates of students for social aspects of epilepsy was generally high. In our study, attitude toward epilepsy was also evaluated. After the education, a mild increase in the attitude score of students was found (p = 0.009). Although it is minimal, the number of students who marked more positive attitude increased for each item of the Attitude scale.

Conclusion: Although a lack of acquaintance was found in some areas, awareness of epilepsy in our sample was at a moderate level. This study showed a positive effect of the education given to students on information acquisition and attitude.
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http://dx.doi.org/10.1016/j.yebeh.2020.107720DOI Listing
March 2021

Adaptive immunity cells are differentially distributed in the peripheral blood of glycine receptor antibody-positive patients with focal epilepsy of unknown cause.

Epilepsy Res 2021 02 25;170:106542. Epub 2020 Dec 25.

Neuroscience Department, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Aim: Glycine receptor (GlyR) autoantibodies (Ab) have been recently detected in epilepsy patients. Our study aimed to investigate the peripheral blood distribution of B and T cell subgroups responsible for antibody production to find clues supporting the distinct organization of adaptive immunity in focal epilepsy of unknown cause (FEUC).

Method: Seven GlyR-Ab positive and 15 GlyR-Ab negative FEUC patients and 25 age-sex matched healthy individuals were included. Peripheral blood mononuclear cells were isolated and immunophenotyped by flow cytometry.

Results: There were no significant differences between CD19 B, CD3 T, CD4 helper T, CD8 cytotoxic T, and CD19CD24CD38 regulatory B cell ratios among the groups. GlyR-Ab negative epilepsy patients had significantly higher CD19IgDCD27 naive B cells and GlyR-Ab positive patients showed reduced percentages of CD19CD38CD138 plasma cells than healthy controls. By contrast, GlyR-Ab positive patients exhibited significantly increased CD3CD4CD25regulatory T (Treg) cells and CD3CD4CD25CD127 Treg cells and relatively increased CD19IgD-CD27 memory B cells without attaining statistical significance.

Conclusion: The increase of Tregs, which are capable of suppressing B cells, maybe a compensating countermeasure to prevent the conversion of effector B cell subgroups. Thus, our findings lend support to the involvement of adaptive immunity in focal epilepsy of unknown cause.
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http://dx.doi.org/10.1016/j.eplepsyres.2020.106542DOI Listing
February 2021

The clinical significance and electrophysiologic findings of fixation-off and closure of the eyes sensitivity: Data from a prospective unselected population.

Epilepsy Res 2021 02 25;170:106541. Epub 2020 Dec 25.

Istanbul University Istanbul Faculty of Medicine, Neurology Department, Fatih, Millet street Istanbul, Turkey.

Purpose: Electroencephalography (EEG) findings related to the eye-closing motion can be defined in two ways: 'sensitivity to eyes closed' (SEC) and 'eye closure sensitivity (ECS).' Fixation-off sensitivity (FOS) is a different phenomenon induced by the elimination of central vision/fixation. The purpose of our study was to determine the frequencies of SEC, ESC, and FOS, and to analyze the relationship between eyes closure and the fixation-off phenomenon and clinical importance in an unselected population.

Methods: We prospectively evaluated 200 routine interictal EEGs by adding a standardized FOS examination protocol between June and September 2015. Goggles covered with semitransparent tape were used to evaluate FOS. We determined SEC when the epileptiform discharges appeared during eye closure and continued during the eye closed state, whereas ECS was defined as transient epileptic abnormalities following the closure of the eyes lasting for 1-4 sec. The patients were evaluated in terms of demographic characteristics, clinical features, and the relationship between SEC, ECS, and FOS.

Results: We detected SEC in 9 (4.4 %) and ECS in 11 (5.4 %) patients. FOS was detected in four (44.4 %) of the patients who showed SEC, all of whom had occipital epileptiform discharges. A statistically significant correlation was found between FOS and treatment resistance in the SEC group (p < 0.001). In logistic regression analysis, occipital lobe epilepsy (p < 0.001) and age under 20 years (p = 0.004) were found as risk factors for SEC. Another interesting finding was the suppression of epileptic discharges with fixation-off in three of 11 patients with ECS.

Conclusions: According to the results of our study, FOS is related to treatment resistance. Therefore, FOS should be evaluated in patients with SEC.
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http://dx.doi.org/10.1016/j.eplepsyres.2020.106541DOI Listing
February 2021

Depression is a major determinant of sleep abnormalities in patients with epilepsy.

Arq Neuropsiquiatr 2020 12;78(12):772-777

Koç University, Department of Neurology, Istanbul, Turkey.

Introduction: We aimed to identify sleep disorders in patients with epilepsy and compare this group with a healthy population. We also analyzed the features of sleep disorders in patients with epilepsy to demonstrate the effect of seizures and seizure types on sleep.

Methods: Our study assessed 43 patients with epilepsy and 53 age- and gender-matched healthy controls. The demographic and clinical data of all participants were recorded. The Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index (PSQI), International Restless Legs Syndrome Study Group Rating Scale, Berlin Questionnaire, and Beck Depression Inventory (BDI) were administered to all study subjects. The interview used to evaluate insomnia is based on the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition - DSM-5 diagnostic criteria.

Results: Twenty-four patients (55.8%) and 26 controls (49.1%) are women. The mean age of patients and controls was 34.2±11.37 (16-71) and 34.6±11.28 (16-77), respectively. Patients with epilepsy had depression more often than controls, a result that was statistically significant (p<0.0001). We found no statistically significant difference between sleep parameters of patients and controls with normal BDI scores (p>0.05). Patients with depression had worse results on the Berlin Questionnaire and PSQI total score, with statistical significance (p=0.002). Nocturnal seizures, seizure type, and drug treatment had no effect on sleep (p>0.05).

Conclusion: We concluded that depression rather than epilepsy negatively affects sleep, suggesting that all patients should be asked about their mood and sleep complaints.
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http://dx.doi.org/10.1590/0004-282X20200064DOI Listing
December 2020

Slow repetitive transcranial magnetic stimulation in refractory juvenile myoclonic epilepsies.

Epilepsy Behav 2020 11 29;112:107479. Epub 2020 Sep 29.

Departments of Neurology and Clinical Neurophysiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

Objective: The objective of the study was to investigate the effects of slow repetitive transcranial magnetic stimulation (rTMS) on patients with refractory juvenile myoclonic epilepsy (JME).

Methods: One thousand pulses with the intensity of 120% active motor threshold (AMT) at 0.2 Hz frequency were applied on 5 consecutive days in 10 patients with refractory JME. Sham rTMS was performed after 3 months. Electroencephalography (EEG) examinations were performed before rTMS, on the 5th day, and 1, 2, 4, and 8 weeks after rTMS. Resting motor threshold (RMT), AMT, and cortical silent periods (CSPs) were recorded before the application and at the end of day 5. The changes in the quality of life were evaluated using the Quality of Life in Epilepsy Inventory (QOLIE-31).

Results: No adverse effects were observed. The number of seizures decreased by 29-50%, and interictal discharge durations decreased 2 weeks after the real rTMS. No significant difference was observed between the AMT and RMT values recorded before and after the stimulations. Statistically significant increases in CSP duration and quality of life scores were found following real rTMS. Repetitive transcranial magnetic stimulation may be considered as a safe treatment option in refractory JME.

Conclusion: This study provides some positive evidence that rTMS may be effective in resistant JME.
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http://dx.doi.org/10.1016/j.yebeh.2020.107479DOI Listing
November 2020

Functional connectivity analysis of patients with temporal lobe epilepsy displaying different ictal propagation patterns.

Epileptic Disord 2020 Oct;22(5):623-632

Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

The pathophysiology of switch-of lateralization and bilateral temporal asynchrony, which are scalp EEG ictal propagation patterns (iPP) in temporal lobe epilepsy (TLE), is poorly understood. We aimed to analyse functional connectivity (FC) of the temporal lobe and related areas in patients with TLE with iPP (iPP-TLE) and without iPP (non-iPP TLE). Twelve patients with iPP-TLE, 13 patients with non-iPP TLE, and 13 healthy controls (HC) underwent resting-state functional MRI (fMRI). Seed-based FC was analysed between the homologous insulae, hippocampi, amygdalae, parahippocampal, superior temporal, and middle temporal gyri. FC was reduced between homologous temporal lobe areas in patients with TLE compared with HCs. Patients with non-iPP TLE displayed decreased FC between the homologous parahippocampal and superior temporal gyri, and patients with iPP-TLE had lower FC between the homologous insulae, parahippocampal and superior temporal gyri compared with HC. Furthermore, patients with iPP-TLE tended to have lower FC between the bilateral insulae when compared with patients with non-iPP TLE. Reduced FC of interhemispheric connections between temporal lobes and related areas might be an adaptive change to protect contralateral areas in seizure propagation. The insula showed decreased FC between two hemispheres in patients with iPP-TLE, assuming a role in ictal scalp propagation pattern changes in TLE.
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http://dx.doi.org/10.1684/epd.2020.1210DOI Listing
October 2020

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Ann Neurol 2021 02 5;89(2):402-407. Epub 2020 Nov 5.

Genetics Department, Lyon Civil Hospices, Lyon, France.

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.
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http://dx.doi.org/10.1002/ana.25941DOI Listing
February 2021

Peripheral blood expression levels of inflammasome complex components in two different focal epilepsy syndromes.

J Neuroimmunol 2020 10 22;347:577343. Epub 2020 Jul 22.

Department of Neuroscience, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Background: Although the role of inflammation in epilepsy pathogenesis has been extensively investigated, the inflammasome complex, a key component of neuroinflammation, has been understudied in epilepsy patients.

Methods: To better understand the involvement of this system in epilepsy, levels of inflammasome complex components (NLRP1, NLRP3, CASP1, ASC), end-products of inflammasome complex activity [IL-1β, IL-18, nitric oxide synthase (NOS) isoforms] and other inflammatory factors (NFκB, IL-6, TNF-α) were measured in peripheral blood of patients with focal epilepsy of unknown cause (FEoUC) (n = 47), mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) (n = 35) and healthy controls using real time qPCR and/or ELISA.

Results: Inflammasome complex associated factors were either downregulated or unchanged in epilepsy patients. Likewise, flow cytometry studies failed to show an increase in ratios of NLRP3-expressing CD3+ and CD14+ peripheral blood mononuclear cells (PBMC) in epileptic patients. Anti-neuronal antibody positive epilepsy patients showed increased NLRP1 and neuronal NOS mRNA expression levels, whereas patients under poly-therapy showed reduced serum inflammasome levels. FEoUC patients demonstrated increased PBMC NFκB mRNA expression levels and serum IL-1β and IL-6 levels. Both MTLE-HS and FEoUC patients displayed higher ratios of NFκB-expressing CD14+ PBMC than healthy controls.

Conclusions: Although previous clinical studies have implicated increased inflammasome complex expression levels in epilepsy, our results indicate suppressed inflammasome complex activity in the peripheral blood of focal epilepsy patients. Alternatively, the IL-6-NFκB signaling pathway, appears to be activated in focal epilepsy, suggesting that factors of this pathway might be targeted for future theranostic applications.
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http://dx.doi.org/10.1016/j.jneuroim.2020.577343DOI Listing
October 2020

Let's talk SUDEP.

Noro Psikiyatr Ars 2019 Dec 5;56(4):292-301. Epub 2019 Sep 5.

İstanbul University, İstanbul Faculty of Medicine, Department of Neurology, İstanbul, Turkey.

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.
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http://dx.doi.org/10.29399/npa.23663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927080PMC
December 2019

Correction to: Long-term follow-up of a large cohort with focal epilepsy of unknown cause: deciphering their clinical and prognostic characteristics.

J Neurol 2020 Mar;267(3):848

Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

The original version of this article unfortunately contained a mistake.
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http://dx.doi.org/10.1007/s00415-019-09675-5DOI Listing
March 2020

Reflex epileptic features in patients with focal epilepsy of unknown cause.

Clin Neurol Neurosurg 2020 03 9;190:105633. Epub 2019 Dec 9.

Istanbul University, Istanbul Faculty of Medicine, Departments of Neurology and Clinical Neurophysiology Unit, Istanbul, Turkey.

Objectives: There is a gap of knowledge regarding reflex seizures in patients with focal epilepsy of unknown cause (FEUC). We aimed to evaluate the prevalence, demographic and clinical characteristics of reflex seizures in patients with FEUC to provide an insight to the underlying ictogenic mechanisms and to draw attention to this important but under-investigated topic.

Patients And Methods: After carefully questioning for reflex triggers, 186 patients diagnosed according to ILAE criteria and followed-up for a minimum of 5 years were included. The demographic and clinical properties as well as electrophysiological and neuroimaging data of these patients were reevaluated and compared to the patients without reflex seizures.

Results: The reflex seizure rate was 6.5 % in patients with FEUC. Patients with reflex features had lower monotherapy rates (p = 0.005) and higher major depression rates (p = 0.001) than patients without reflex features. The distribution of the patients according to their reflex triggers were as follows: hot-water induced (n = 3, 25 %), photosensitive (n = 2, 16.7 %), eating- induced (n = 2, 16.7 %), musicogenic (n = 2, 16.7 %), startle induced (n = 2, 16.7 %) and both musicogenic and startle type (n = 1, 8.3 %) respectively. The drug resistance rate of patients with reflex seizures was 25 % (n = 3). One patient with drug resistant reflex seizures showed benefit from epilepsy surgery and became seizure-free during last 3 years of follow-up.

Conclusion: A careful and thoroughly history taking specifically questioning and focusing on seizure inducing factors in patients with FEUC is needed to confirm the presence of reflex seizures in patients with FEUC, who had higher rates of polytherapy and major depression. Elaborative evaluation of reflex features in FEUC might contribute to effective seizure control, ensure new therapeutic approaches, enlighten the obscurity and the resulting anxiety of having a diagnosis of FEUC in epilepsy patients.
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http://dx.doi.org/10.1016/j.clineuro.2019.105633DOI Listing
March 2020

Long-term follow-up of a large cohort with focal epilepsy of unknown cause: deciphering their clinical and prognostic characteristics.

J Neurol 2020 Mar 2;267(3):838-847. Epub 2019 Dec 2.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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.
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http://dx.doi.org/10.1007/s00415-019-09656-8DOI Listing
March 2020

Relationship Between Sleep Characteristics and Sudden Unexplained Death Risk in Epilepsy.

Neurologist 2019 Nov;24(6):170-175

Neurology Department, Istanbul Faculty of Medicine.

Background: Sleep disorders and disturbances are generally underestimated in patients with epilepsy. The aim of this study is to determine the frequency of sleep disturbances and the comorbidity of sleep disorders in people with epilepsy without any complaints about sleep and their relation of sudden unexplained death in epilepsy (SUDEP) risk.

Methods: Sleep complaints and the presence of sleep disorders were assessed with 4 questionnaires in 139 patients with epilepsy. Subjective sleep features were evaluated with Pittsburgh Sleep Quality Index (PSQI), the Epworth Sleepiness Scale (ESS), the Berlin Questionnaire for sleep apnea, and restless legs syndrome with International Restless Legs Syndrome Study Group (IRLSSG) severity scale. The presence of rapid eye movement/nonrapid eye movement parasomnia was asked to the patients and their relatives who share the same house. The patients' SUDEP-7 scores were also determined and associations with sleep problems were investigated statistically.

Results: Ninety-two patients with focal and 47 patients with generalized epilepsy were evaluated after their consent. The daily sleep quality was poor in 34 (24.5%) patients with PSQI. Daily sleepiness was present in 7 (5%) patients with ESS. Twenty-five patients (18%) had severe sleep apnea risk with the Berlin Questionnaire. Mild or severe RLS was detected in 24 patients (17.2%). There were no significant differences between focal or generalized epilepsy groups' scores. No statistically significant relationship was identified between SUDEP-7 scores and sleep quality or sleep-related disorders.

Conclusion: Our results emphasized a remarkable magnitude of the comorbidity of sleep disorders in patients with epilepsy, even for those who do not have complaints about sleep. As SUDEP cases are frequently seen during sleep, it is important to evaluate sleep in patients with epilepsy.
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http://dx.doi.org/10.1097/NRL.0000000000000254DOI Listing
November 2019

Investigation of Generalized EEG Paroxysms Accompanying Focal Epilepsies.

Clin EEG Neurosci 2019 Nov 28;50(6):413-422. Epub 2019 Jun 28.

1 Istanbul University, Istanbul, Turkey.

Interictal focal EEG features were frequently observed in generalized, epilepsies, but there is limited information about interictal, epileptiform/nonepileptiform generalized paroxysms in focal epilepsies. We aimed to report the frequency and associated factors of generalized EEG discharges in focal epilepsy with unknown cause (FEUC) and mesial, temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). A total of 200 patients (FEUC in 90 patients; MTLE-HS in 110 patients) were included. Generalized epileptiform (spike/sharp waves simultaneously in all regions) and nonspecific generalized discharges (paroxysmal slow waves) were investigated. All clinical and laboratory findings of 2 groups were compared with each other and with remaining control group, without generalized paroxysms, statistically. Generalized EEG features were present in 22 (11%; 4 males) patients; 9 in the FEUC group (10%; 2) and 13 in the MTLE-HS group (11.8%). Female gender ( < .021), febrile seizure ( < .034), precipitant factors ( < .025), and parental consanguinity ( < .033) were significantly higher in the group with generalized EEG findings. Monotherapy rates were lower in the MTLE-HS group ( < .05). The relationship of generalized EEG features with female gender and parental consanguinity may point out to a genetic property among focal epilepsies, while the relationship with febrile seizures and precipitant factors may be a clue about mechanisms with more extensive involvement of the neuronal networks.
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http://dx.doi.org/10.1177/1550059419841837DOI Listing
November 2019

The Impact of Affective State on Quality of Life in Focal Epilepsy in Turkey.

J Neurosci Rural Pract 2019 Apr-Jun;10(2):267-272

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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 -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 ( < 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.
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http://dx.doi.org/10.4103/jnrp.jnrp_324_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454954PMC
April 2019

Investigation of the Roles of New Antiepileptic Drugs and Serum BDNF Levels in Efficacy and Safety Monitoring and Quality of Life: A Clinical Research.

Curr Clin Pharmacol 2020 ;15(1):49-63

Department of Medical and Clinical Pharmacology, Cerrahpasa Faculty of Medicine, Istanbul University, Cerrahpasa Street / Fatih 34093, Istanbul, Turkey.

Objective: We aimed to determine the therapeutic drug monitoring (TDM) features and the relation to Brain-Derived Neurotrophic Factor (BDNF) of frequently used new antiepileptic drugs (NADs) including lamotrigine (LTG), oxcarbazepine (OXC), zonisamide (ZNS) and lacosamide (LCM). Moreover, we investigated their effect on the quality of life (QoL).

Methods: Eighty epileptic patients who had been using the NADs, and thirteen healthy participants were included in this cross-sectional study. The participants were randomized into groups. The QOLIE-31 test was used for the assessment of QoL. We also prepared and applied "Safety Test". HPLC method for TDM, and ELISA method for BDNF measurements were used consecutively.

Results: In comparison to healthy participants, epileptic participants had lower marriage rate (p=0.049), education level (p˂0.001), alcohol use (p=0.002). BDNF levels were higher in patients with focal epilepsy (p=0.013) and in those with higher education level (p=0.016). There were negative correlations between serum BDNF levels and serum ZNS levels (p=0.042) with LTGpolytherapy, serum MHD levels (a 10-monohydroxy derivative of OXC, p=0.041) with OXCmonotherapy. There was no difference in BDNF according to monotherapy-polytherapy, drugresistant groups, regarding seizure frequency. There was a positive correlation between total health status and QoL (p˂0.001). QOLIE-31 overall score (OS) was higher in those with OXCmonotherapy (76.5±14.5). OS (p˂0.001), seizure worry (SW, p=0.004), cognition (C, p˂0.001), social function (SF, p˂0.001) were different in the main groups. Forgetfulness was the most common unwanted effect.

Conclusion: While TDM helps the clinician to use more effective and safe NADs, BDNF may assist in TDM for reaching the therapeutic target in epilepsy.
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http://dx.doi.org/10.2174/1574884714666190312145409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497568PMC
June 2021

Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach.

PLoS One 2019 8;14(2):e0211917. Epub 2019 Feb 8.

Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University, Istanbul, Turkey.

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.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211917PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368378PMC
November 2019

Follow-up of patients with epilepsy harboring antiglycine receptor antibodies.

Epilepsy Behav 2019 03 12;92:103-107. Epub 2019 Jan 12.

Department of Neuroscience, Istanbul University, Institute of Experimental Medicine, Istanbul, Turkey.

Objective: The long-term follow-up of patients with epilepsy harboring autoantibodies against the glycine receptor (also glycine receptor antibodies or GlyR-Ab) is not well-known. Our aim was to investigate the 5-year prognosis and treatment response of patients with epilepsy who were seropositive for GlyR-Ab.

Methods: Clinical features; electroencephalogram (EEG), neuroradiological, and neuropathological findings; and treatment responses of patients with epilepsy with GlyR-Ab seropositivity were investigated.

Results: Thirteen (5.46%) of 238 patients with epilepsy were GlyR-Ab positive: focal epilepsy of unknown cause (FEoUC) was diagnosed in four (7.27%) out of 55 patients, mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) in five (4.5%) out of 111 patients, epileptic encephalopathy (EE) in two (4%) out of 50 patients, and status epilepticus (SE) in two (9.09%) out of 22 patients. None of the patients developed any other neurological symptoms or cancer during the 5-year follow-up. Seven of them had seizures that were resistant to antiepileptic drug (AED). Immunotherapy was used in two patients (with FEoUC and EE) improving seizure control. Three patients with MTLE-HS benefited from epilepsy surgery, and another patient with EE showed spontaneous remission.

Conclusion: Glycine receptor antibodies are detected in a wide spectrum of epileptic disorders with unclear pathogenic significance. Two GlyR-Ab seropositive patients with AED-resistant epilepsy treated with intravenous immunoglobulin (IVIg) showed clear benefit from immunotherapy. Future studies will be valuable in determining the role of screening patients with drug-resistant epilepsy for GlyR-Ab in order to identify patients who may benefit or respond to immunotherapy.
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http://dx.doi.org/10.1016/j.yebeh.2018.09.034DOI Listing
March 2019

Impact of seizure-related injuries on quality of life.

Neurol Sci 2019 Mar 5;40(3):577-583. Epub 2019 Jan 5.

Istanbul Faculty of Medicine, Department of Neurology Epilepsy Division, Istanbul University, Istanbul, Turkey.

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.
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http://dx.doi.org/10.1007/s10072-018-3697-3DOI Listing
March 2019

Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia.

Epileptic Disord 2018 Oct;20(5):396-400

Department of Neurology, Istanbul Faculty of Medicine, Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

In addition to a complex inheritance pattern in genetic generalized epilepsy (GGE) syndromes, some studies have recently identified SLC2A1 variants which lead to glucose transporter type 1 (GLUT1) defects, in patients diagnosed with GGE. Here, we investigated the possible role of SLC2A1 variants in GGE patients with eyelid myoclonia (EM) which is a rare generalized seizure type associated with drug resistance and cognitive dysfunction. After polymerase chain reaction with designed primers, sequencing of all SLC2A1 exons was performed for 25 GGE-EM patients, as well as a control group of 15 GGE patients with absence seizures. Although various single nucleotide polymorphisms clustered in the ninth exon were detected, no variant was found in the two groups with GGE. Even though the patient number in this study is small, the data suggest that SLC2A1 variants do not play any causative role in GGE associated with EM.
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http://dx.doi.org/10.1684/epd.2018.0998DOI Listing
October 2018

Investigation of the Video-EEG Findings and Clinical Data in Patients Diagnosed With Epilepsy and Psychosis.

Neurologist 2018 Sep;23(5):167-174

Departments of Neurology and Clinical Neurophysiology.

Background: Studies on electrophysiological characteristics of patients with epilepsy and concomitant psychosis are limited. We aimed to investigate the clinical and video-electroencephalography (EEG) findings of patients with epilepsy-related psychosis (EP).

Materials And Methods: Fifteen patients diagnosed with EP, assessed at the video-EEG monitoring unit and were under follow-up at both epilepsy and psychiatry clinics, were included. A total of 67 nonpsychotic epilepsy patients, investigated at the video-EEG monitoring unit were randomly selected as the control group and compared statistically with the EP group.

Results: In medical history, patients with EP had experienced significantly higher level of status epilepticus (P=0.002) and perinatal cerebral injury (P=0.04), whereas drug-resistant epilepsy was detected at a lower level (P=0.015). With respect to seizure onset zone, the EP group had significantly more seizures of unknown foci, whereas the control group had mostly temporal lobe origin (P=0.0004). EEG findings showed that slow background activity was significantly common among patients with EP (P=0.009). Although only 5 of 15 patients with EP had been operated, 43 of 67 patients had undergone epilepsy surgery (P=0.04) in the control group. However, there was no significant difference between the 2 groups with respect to postoperative seizure control as per Engel classification.

Conclusions: Although our sample size could be considered small, slowed EEG background activity, and the marked frequency of initial precipitant factors such as status epilepticus, perinatal cerebral injury, and detected neuronal autoantibodies suggested that EP is associated with more extensive involvement. EP is not a contraindication for epilepsy surgery, when appropriately investigated preoperatively.
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http://dx.doi.org/10.1097/NRL.0000000000000195DOI Listing
September 2018
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