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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]

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]

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]

Purpose To draw attention to epileptic pain which is a rare seizure symptom mostly causing wrong diagnosis and delayed treatment. We present nine patients in whom pain was a prominent initial or early ictal symptom. Methods We reviewed the records of 4736 patients, and found nine patients who had pain as an aura or an early prominent symptom of their seizures. Seizure semiology, EEG, and cranial imaging features were evaluated retrospectively. Results Age at seizure onset ranged from 6 months to 50 years, and the mean age during the study was 37.7 ± 11.9 years. Pain was predominantly peripherally localized in four patients, whereas cephalic pain was detected in three patients, and abdominal pain was detected in two patients. Electroencephalography (EEG) revealed epileptic abnormalities on the temporoparietal and frontotemporal regions in three patients each. Photosensitive generalized epileptic discharges were detected in one and diffuse background slowing in the remaining two other patients. Electroencephalography abnormalities were lateralized to the contralateral site of the pain in four patients with strictly localized pain. Three patients revealed no abnormality on the cranial MR imaging, whereas others showed different types of abnormality such as heterotopias (n:1), mesial temporal lobe atrophy (n:1), white and gray matter sequela lesions (n:1), diffuse white matter lesion (n:1), chronic encephalomalacia and gliosis (n:1), and perivascular space dilatation (n:1). Conclusion Epileptic pain is a neglected, but important, semiologic symptom with localization and lateralization value in the patients with somatosensorial seizures of parietal as well as temporal lobe origin. It occurs mainly as peripherally localized, cephalic, or abdominal pain and is usually associated with a symptomatic etiology. Awareness of epileptic pain is important to avoid misdiagnosis and delayed treatment. [ABSTRACT FROM AUTHOR]

Hyperintensity at diffusion weighted magnetic resonance imaging (DWI) and hipointensity at 'apparent diffusion coefficient' (ADC) mapping are indicators of cytotoxic edema. These changes are typical for acute ischemic cerebrovascular accidents. During epileptic seizures, transient imaging findigs can be seen in the cranial computed tomography and magnetic resonance imaging. MRI studies during partial status epilepticus in animals show DWI and ADC anomalies which can be related to cytotoxic oedema. Same findings can also be seen in humans. Migraine and transient ischemic attacks can cause transient changes in the MRI which may also accompany epileptic seizures. We discuss here a 44 years old patient who had sensorial complaints and weakness after new onset migraine -like headache accompanied by transient MRI findings. [ABSTRACT FROM AUTHOR]

Background and Aims: We investigated the prevalence of this multidrug resistance 1 gene (MDR1) polymorphism in drug-responsive versus drug-resistant epilepsy patients treated with carbamazepine (CBZ), which is a substrate of this protein. Methods: We genotyped the C3435T variant of MDR1 in 97 patients treated with CBZ monotherapy who had been on stable doses for more than 1 month. Our control group included 174 healthy individuals. Plasma CBZ concentrations were also measured using fluorescence polarization immunoassay. Results: We could not demonstrate any statistically significant relationship with the genotypes among drug-resistant patients (n = 44). The frequency of the homozygous mutant (TT) genotype was 15% in drug-responsive patients, 11.3% in drug-resistant patients and 25.8% in the control group. We also did not observe any significant correlation between the presence of a specific allele and CBZ plasma level/dose index. Conclusion: Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to examine seizure frequency and psychosocial outcomes in patients with epilepsy (PwE) during the COVID-19 pandemic. Methods: This cross-sectional case-control study included 319 adult PwE and 327 healthy controls (HC). The data were collected using a patient/person information form, Worry and Anxiety Questionnaire (WAQ), Beck Depression Inventory (BDI-II), and the Pittsburg Sleep Quality Index (PSQI). Results: Seventy-four (23.1%) patients had an increase in seizure frequency during the pandemic. The mean age of PWE with increased seizure frequency (ISF) was lower (32.8±9.3) than PWE with unchanged seizure frequency (USF) (37.0±11.4). When psychosocial impacts of the pandemic were compared between the groups, the ISF group was psychologically affected more than the USF and HC groups. WAQ and BDI-II scores were higher in ISF than USF and higher in USF than HC group. Also, the analysis revealed that the seizure frequency during the pandemic was almost similar before the pandemic. However, only those who had frequent seizures before the pandemic had worsened seizure frequency during the pandemic. The analysis showed that factors such as having trouble in drug supply, having more than 4-6 seizures in a year, worrying about seizure intervention, and being depressed, were related to being psychologically affected by the pandemic. Conclusion: It was observed that the psychosocial outcomes during the pandemic were worse in PwE than healthy controls, especially in those with increased seizure frequency. Therefore, it is essential to increase the medical and psychosocial support to PwE during the pandemic. [ABSTRACT FROM AUTHOR]

Objective: In the COVID-19 pandemic period, the effect of COVID-19 fear on quality of life was uncertain. This present study examined the effect of fear of COVID-19 on quality of life in patients with epilepsy through anxiety and depression. Methods: This single-center, cross-sectional study was conducted with a total of 319 adult patients with epilepsy. The mean age of the patients was 36.0 (± 11.1) years, and 53% were male. The mean duration of diagnosis was 16.0 (± 10.6) years, and more than half of the patients (52.4%) were using two and more antiepileptic drugs. Data were collected online between 15 December 2020 and 5 January 2021. COVID-19 Fear Scale, Beck Depression Inventory, Worry and Anxiety Questionnaire, and Epilepsy Quality of Life Scale-10 were used for data collection. Serial mediation analysis was conducted to determine the effect of COVID-19 fear on quality of life. Results: Although there was a significant correlation between them, the fear of COVID-19 did not directly affect the quality of life. The fear of COVID-19 increased anxiety and depression respectively, the increase in the mediators also decreased the quality of life. Conclusion: The fear of COVID-19 experienced by patients with epilepsy did not have a significant direct effect on the quality of life. However, it was found that it had an indirect effect on the quality of life by increasing mental health problems such as anxiety and depression, the indirect effect was mostly on anxiety. [ABSTRACT FROM AUTHOR]

[Display omitted] • Psychiatric comorbidities were found in 24.8 % (n = 69) of epilepsy patients. • Depression (16.9 %) and generalized anxiety disorder were the most common (5.7 %). • Low quality of life increased the risk of psychiatric comorbidity by 2.6 times. • Psychiatric disease history increased the psychiatric comorbidities by 2.8 times. • High perceived stigma increased the psychiatric comorbidity risk by 1,5 times. Research around the frequency of psychiatric diseases and psychosocial consequences caused by seizures and stigmatization in patients with epilepsy is important, in terms of multidimensional evaluation of the condition, increasing quality of life, and controlling the frequency of seizures. This prospective study aimed to evaluate relationship between comorbid psychiatric diseases and clinical and sociodemographic data, patients' quality of life and perceived stigma in patients with epilepsy. In this prospective single-center study, we evaluated clinical and demographic data, and characteristics of epilepsy. We used the Symptom Check List 90-Revised (SCL-90-R) as a screening test for psychiatric comorbidities and the Mini International Neuropsychiatric Interview (MINI) test for patients who had an SCL90-R general symptom index (GSI) score of ≥1. The frequency of psychiatric comorbidities, the association between comorbid psychiatric disorders and quality of life, and the level of stigmatization in patients with epilepsy was assessed using the Quality of Life in Epilepsy Inventory (QOLIE-10) and Perceived Stigma Scale. SCL90-R GSI scores of ≥1 were found in 122 of 300 patients. Psychiatric comorbidities were found in 24.8% (n = 69) of patients with epilepsy in the MINI test, major depression was found in 16.9 %, (n = 47), and generalized anxiety disorder was the most common (5.7 %, n = 16). The number of anti-seizure medications (p = 0.007), high seizure frequency (p = 0.01), seizure in previous 12 months (p = 0.003), history of epilepsy surgery (p = 0.032) and psychiatric disease (p < 0.001), and high perceived stigma (p < 0.001) and QOLIE-10 (p < 0.001) scores were all correlated with psychiatric comorbidities. According to the results of our study, an important correlation was determined between psychiatric comorbidities and a history of psychiatric disease, poor quality of life, and high perceived stigma scores in patients with epilepsy. This suggests that screening patients for comorbid psychiatric conditions in epilepsy outpatient clinics is critical, as is establishing a strong collaboration with the psychiatry clinic, to reduce psychosocial issues and the economic burden of stigmatization and improve quality of life. [ABSTRACT FROM AUTHOR]

• About two-thirds of family caregivers (60.7 %) reported varying degrees of caregiver burden. • Caregiver burden was higher in female caregivers than in male caregivers. • ZBI score was significantly correlated with the patient's cognitive status and stigma level. • ZBI score was significantly correlated with the patient's anxiety, depression, and quality of life. • Caregiver burden was associated with sociodemographic and clinical variables of epilepsy patients. The aim of this study was to evaluate caregiver burden and factors associated with caregiver burden in caregivers of adults with epilepsy. This descriptive cross-sectional study was conducted with 107 patients with epilepsy and 107 their primary caregivers. Personal information form including sociodemographic data and Zarit Caregiver Burden Inventory (ZBI), were used for caregivers, and patient information form, Montreal Cognitive Assessment Scale (MoCA), Hospital Anxiety and Depression Scale (HADS), Epilepsy Quality of Life Scale (QoLIE-31) and Stigma Scale were used for patients. Caregiver burden was found to be related to gender (p = 0.047), marital status (p = 0.008), income (p = 0.003), education level (p = 0.05) age at onset of epilepsy (p = 0.025) and type of therapy (p = 0.005). The scale scores for cognitive functions (p < 0.001), stigma (p < 0.001), anxiety (p = 0.001), depression (p = 0.005), and quality of life (p < 0.001) of the patient showed significant correlations with caregiver burden. In addition, caregiver burden was found to correlate with some caregiver characteristics such as caregivers' age (p = 0.041), gender (p < 0.001), education (p < 0.001), income (p = 0.001) and relationship with the patient (p = 0.016). Time spent on caregiving per day was also positively correlated with caregiving burden (p < 0.001). In regression analysis, the gender of the caregiver, the gender of the patient, the stigma level of patient, and the type of treatment were found to be predictors of care burden (p < 0.05, R2 = 0.61). It was found that two-thirds of the families of patients with epilepsy experienced varying degrees of caregiver burden. In addition, it was determined that caregiver burden was associated with sociodemographic and numerous psychosocial factors of the patient as well as the caregiver. It is important that both the caregiver and the patient being cared for are closely evaluated in interventions to reduce the caregiver burden in patients with epilepsy. [ABSTRACT FROM AUTHOR]

Transcranial direct current stimulation (tDCS) is a non-invasive technique, used to modify the excitability of the central nervous system. The main mechanism of tDCS is to change the excitability by subthreshold modulation by affecting neuronal membrane potentials in the direction of depolarization or repolarization. tDCS was previously investigated as an alternative adjunctive therapy in patients with epilepsy. We aimed here to investigate the acute effect of tDCS on the photoparoxysmal response (PPR) in EEG. We enrolled 11 consecutive patients diagnosed with idiopathic generalized epilepsy who had PPR on at least 2 EEGs. Three different procedures, including sham, anodal, and cathodal tDCS were applied to the patients at intervals of one week by placing the active electrode over Oz, for 2 mA, 20 minutes. Spike-wave indices (SWI) were counted by two researchers independently and were compared during intermittent photic stimulation (IPS) on EEGs both before and after the application. After cathodal tDCS, SWI increased compared to baseline EEG and sham EEG in 3 patients, and after anodal tDCS, SWI increased in 2 patients. Although the SWI values did not change significantly, 8 patients reported subjectively that the applications were beneficial for them and that they experienced less discomfort during photic stimulation after the sessions. There were no side effects except transient skin rash in one patient, only. In our sham controlled tDCS study with both cathodal and anodal stimulation, our data showed that there was no significant change in SWI during IPS, despite subjective well-being. tDCS' modulatory effect does not seem to act in the acute phase on EEG parameters after photic stimulation. • Depending on the teratogenicity risk of anti-seizure drugs in women with photosensitive epilepsy different treatment options are needed. • tDCS is a non-invasive technique used to modify CNS excitability, but its acute effect on PPR in EEG remained unclear in our study. • SWI did not significantly change during IPS after tDCS, but subjective improvements observed. [ABSTRACT FROM AUTHOR]

Abstract 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. [ABSTRACT FROM AUTHOR]

Purpose Epilepsy not only is a medical disorder characterized by seizures, but is also associated with stigma and a neurological disorder that affects quality of life. Insufficient knowledge and misconceptions about epilepsy that causes the development of negative attitudes towards patients with epilepsy increase the stigmatization and psychosocial problems and impact the quality of life. The aim of this study was to examine the relationship between epilepsy knowledge, attitude, stigma, anxiety and depression, and quality of life within the framework of structural equation modeling. Method This research was carried out between May 2015 and May 2016 at the Epilepsy Outpatient Clinic of Istanbul University Istanbul Faculty of Medicine. The Epilepsy Knowledge Scale, Epilepsy Attitude Scale, Stigma Scale, Hospital Anxiety and Depression Scale, and Quality of Life in Epilepsy Scale-10 (QOLIE-10) were used. To determine the relationship between the concepts, research hypotheses were created, and structural equation modeling was made. Results Two hundred five patients were included in the study, 53.7% were women, and the mean age was 32.5. It was found that 72.2% had generalized seizures, and 46.3% had more than one seizure per month. According to our proposed model, knowledge had a moderate relationship with attitude (including stigma) (r = 0.50) that, in turn, had a strong relationship with mental health (r = − 0.62) while a moderate relationship with quality of life (r = 0.45). Our findings revealed that proposed model accounted for 20% of the variance in quality of life and 39% of the variance in mental health (anxiety and depression). Conclusion Mental health and quality of life of patient with epilepsy are closely related to the knowledge, attitude, and perceived stigma of the patients. Therefore, educating/supporting patients can help increase the mental health and quality of life. [ABSTRACT FROM AUTHOR]

To evaluate the effect of continuous theta-burst stimulation (cTBS) in patients with drug-resistant epilepsy (DRE). Twelve patients with DRE (five with idiopathic generalized and seven with focal epilepsy) were included in this cross-over design study and randomized to either first sham or first active stimulation, each applied for 5 consecutive days. A round coil over the vertex was used in generalized epilepsy or a figure-of-8 coil over the "epileptogenic area" in focal epilepsy. Sham stimulation was given by placing the coil 90° perpendicular to the head. The number of seizures, electroencephalography findings, Quality of Life in Epilepsy Inventory (QOLIE-84), and Symptom Check List (SCL-90) scores evaluated during the 8–12 weeks before and after active and sham stimulations were compared statistically. Eight patients could complete both active and sham stimulation periods of 5 days and two patients completed active stimulation sessions, without any significant adverse effects. The number of seizures significantly reduced after active cTBS, but not after sham stimulation, when compared with those recorded before the stimulation period. QOLIE scores were increased, but interictal epileptiform discharges and SCL-90 scores showed no difference after cTBS. Active stimulation was stopped in one patient after he experienced an aggravation of myoclonic seizures. cTBS seemed to be relatively safe and gave promising results in reducing the frequency of seizures in patients with both generalized and focal DRE. This time-saving technique may ease the introduction of repetitive transcranial magnetic stimulation into the routine practice of busy epilepsy clinics. [ABSTRACT FROM AUTHOR]

Background: Peri-ictal water drinking is a rare vegetative symptom reported in temporal lobe epilepsy. Our aim was to investigate the clinical, EEG, MRI findings and psychiatric comorbidities of the patients reporting peri-ictal water drinking in their seizures. Methods: Patients reporting "water drinking" behavior, more than two times in their visits, as a consistent peri-ictal phenomenon were included and systematically questioned for the characteristics of peri-ictal water drinking. Demographic, clinical and other available investigations were recorded from patients' files. Epileptic patients without peri-ictal water drinking (Group II) and normal subjects (Group III) were included as two control groups for psychiatric evaluations. Results: Yale-Brown Obsessive Symptoms, Dissociative Experiences Scale, Hamilton Anxiety Rating Scale and Depression Rating Scale scores were significantly high in the study group (Group I) compared to normal controls (Group III) but these scores were not different compared to Group II. Although there was no difference between the Group I and Group II according to comorbid psychiatric diagnoses, compulsive symptom category of "washing" was detected significantly more frequent in group with peri-ictal water drinking (p:0.007). Conclusion: The presence of peri-ictal water drinking does not seem to have a specific association with substantial psychiatric comorbidity in temporal lobe epilepsy patients. Our study provided preliminary evidence that peri-ictal water drinking might be associated only with a specific type of compulsions, namely washing compulsions. [ABSTRACT FROM AUTHOR]

Dravet syndrome (DS) is a severe epilepsy syndrome starting in infantile period and caused usually by mutations of SCN1A gene. SUDEP (sudden unexplained death in epilepsy) is described as death in epilepsy patients with unknown reason even after postmortem examinations. DS is associated with a higher risk of SUDEP. A 20-year-old man had experienced his first seizures started as complex febrile seizure when he was 8 months old. Then generalized, myoclonic, atypical absence seizures had begun besides mental retardation. EEG showed diffuse slow waves in theta frequency, sharp and slow wave activities over the right centroparietal part. Although he had been used numerous anti-epileptic drugs at different times and combinations, his seizures continued 10-15 times in a month. He was diagnosed with DS in our center and a novel mutation of SCN1A gene was found in Exon 11 as C>T (c.1714) transition. This change causing substitution of serin instead of proline in the 566. aminoacid position of the protein (p.Pro566Ser) was reported for the first time in SCN1A database. Hypertension and tachycardia have developed when he was 19, but there is no additional findings regarding SUDEP etiology in the detailed examinations of cardiologists. This patient passed away in his last GTC seizure under the withness of his family. The autopsy could not demonstrate any reason for his death and supported definite SUDEP. In the light of this case, it is targetted to attract attention raised SUDEP risk in DS and necessity of cardiac treatment and planning of pursuits. [ABSTRACT FROM AUTHOR]

Abstract: Some patients with idiopathic/genetic generalized epilepsy (IGE) experience visual aura, which can confuse the diagnosis. We sought to determine the frequency and characteristics of visual auras in IGE patients. Among the 176 IGE patients, 4 men and 7 women reported visual auras (mean age — 24years). Syndromic diagnoses were juvenile myoclonic epilepsy in four, eyelid myoclonia with absences (EMA) in three, juvenile absence epilepsy in three, and other in one. Visual auras consisted of flashing lights, macropsia, illusional movements, and blindness. Eyelid myoclonia with absences was significantly more common in the group with visual aura (3 of 11 patients vs. 8 of 165 IGE patients; P=0.02). Furthermore, photosensitivity was found significantly more common in IGE patients with visual aura (90% vs 46% of the total IGE patients) (P=0.004). In conclusion, the visual auras do not exclude a diagnosis of IGE. The presence of visual aura in the EMA syndrome is also remarkable. [Copyright &y& Elsevier]

Objective: We herein report the first three genetically proven Unverricht-Lundborg disease (ULD) patients in Turkey and their clinical comparisons with eight CSTB mutation negative patients who were suspected to have ULD. Materials and Methods: Eleven progressive myoclonic epilepsy (PME) patients were included with a presumptive clinical diagnosis of ULD. All patients were examined physically, neurologically, psychiatrically and questioned about their daily activities. During the follow-up, clinical, EEG and MRI data were analyzed. Genomic DNA was extracted from peripheral blood of each patient by standard procedures, after signed informed consent and analyzed for mutations in CSTB. Results: Two ULD patients were homozygous for the dodecamer repeat expansion mutation, while the third was compound heterozygous for the expansion and a novel nonsense mutation in exon 2 of CSTB. The ULD patients appeared to have more cerebro-cerebellar atrophy in their MRIs, psychiatric problems, more prominent cognitive defects and they needed more often help in their daily activities. The background activity in their EEGs seemed slower and the EEGs had more pronounced generalized epileptiform activity and photosensitivity. They had myoclonia, which was more sensitive to external stimuli including visual stimulation. Complex partial and absence seizures as presenting symptoms were only present in the mutation negative patients. This group tended to be misdiagnosed as juvenile myoclonic epilepsy or focal epilepsy, whereas all ULD patients were diagnosed as idiopathic generalized epilepsy before reaching the final diagnosis during follow-up. Conclusions: However there are no clearly differentiating features between the CTSB mutation negative and positive cases. [ABSTRACT FROM AUTHOR]

Objective: Brain-derived neurotrophic factor (BDNF), a neurotrophin which performs its activity through neurotrophic tyrosine kinase receptors, is one of the candidate genes for epilepsy. Our aim is to investigate brain-derived neurotrophic factor (BDNF) gene polymorphisms as an candidate gene in patients with temporal lobe epilepsy. Methods: One hundred and seven patients included in the study were divided into two groups as mesial temporal sclerosis (MTS) (n:62) and non-MTS (n:45), and compared with 104 healthy controls. C-T substitution at position 240 in the BDNF gene which corresponds to the 270C/T polymorphism was analysed using a PCR-restriction fragment length polymorphism (RFLP) method. Results: From a clinical point of view, the history of febrile convulsions and status epilepticus in medically intractable patients with MTS was statistically very significant in comparison to the other group (p<0.000), as expected. There was no statistical significance in the distribution of genotypes between the TLE group (MTS group and non-MTS group) and the control group individuals. Conclusion: Hence, in patients with temporal lobe epilepsy, BDNF gene polymorphism was not detected. The indication of lack of correlation between BDNF gene polymorphism and TLE contributes to literature in that it makes it possible for future researchers to compare and contrast their results with studies that had not yielded statistically significant results. [ABSTRACT FROM AUTHOR]

• GlyR-Ab positive patients exhibited significantly increased CD3+CD4+CD25highregulatory T (Treg) cells and CD3+CD4+CD25highCD127low/- Treg cells and relatively increased CD19+IgD-CD27+ memory B cells without attaining statistical significance. • GlyR antibody positive patients showed differential blood immunophenotype distribution as compared to seronegative epilepsy patients and healthy controls, suggesting that GlyR antibody positive, focal epilepsy patients with an unknown cause have a distinct physiopathology. • Our study has provided clues suggesting that adaptive immunity might participate in some subgroups of focal epilepsy of unknown cause. 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). 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. There were no significant differences between CD19+ B, CD3+ T, CD4+ helper T, CD8+ cytotoxic T, and CD19+CD24++CD38++ regulatory B cell ratios among the groups. GlyR-Ab negative epilepsy patients had significantly higher CD19+IgD+CD27− naive B cells and GlyR-Ab positive patients showed reduced percentages of CD19+CD38+CD138+ plasma cells than healthy controls. By contrast, GlyR-Ab positive patients exhibited significantly increased CD3+CD4+CD25highregulatory T (Treg) cells and CD3+CD4+CD25highCD127low/- Treg cells and relatively increased CD19+IgD-CD27+ memory B cells without attaining statistical significance. 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. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. Unlabelled Image • Inflammasome complex associated factors were either downregulated or unchanged. • Patients under poly-therapy showed reduced serum inflammasome levels. • High ratios of NFκB-expressing CD14+ blood mononuclear cells were displayed. • The IL-6-NFκB signaling pathway, appears to be activated in focal epilepsy. [ABSTRACT FROM AUTHOR]