Novel GATOR1 variants in focal epilepsy.

INTRODUCTION: Variants in GATOR1 genes are well established in focal epilepsy syndromes. A strong association of GATOR1 variants with drug-resistant epilepsy as well as an increased risk of sudden unexplained death in epilepsy warrants developing strategies to facilitate the identification of patients who could potentially benefit from genetic testing and precision medicine. We aimed to determine the yield of GATOR1 gene sequencing in patients with focal epilepsy typically referred for genetic testing, establish novel GATOR1 variants and determine clinical, electroencephalographic, and radiological characteristics of variant carriers. PATIENTS AND METHODS: Ninety-six patients with clinical suspicion of genetic focal epilepsy with previous comprehensive diagnostic epilepsy evaluation in The Neurology Clinic, University Clinical Center of Serbia, were included in the study. Sequencing was performed using a custom gene panel encompassing DEPDC5, NPRL2, and NPRL3. Variants of interest (VOI) were classified according to criteria proposed by the American College of Medical Genetics and the Association for Molecular Pathology. RESULTS: Four previously unreported VOI in 4/96 (4.2%) patients were found in our cohort. Three likely pathogenic variants were determined in 3/96 (3.1%) patients, one frameshift variant in DEPDC5 in a patient with nonlesional frontal lobe epilepsy, one splicogenic DEPDC5 variant in a patient with nonlesional posterior quadrant epilepsy, and one frameshift variant in NPRL2 in a patient with temporal lobe epilepsy associated with hippocampal sclerosis. Only one VOI, a missense variant in NPRL3, found in 1/96 (1.1%) patients, was classified as a variant of unknown significance. CONCLUSION: GATOR1 gene sequencing was diagnostic in 3.1% of our cohort and revealed three novel likely pathogenic variants, including a previously unreported association of temporal lobe epilepsy with hippocampal sclerosis with an NPRL2 variant. Further research is essential for a better understanding of the clinical scope of GATOR1 gene-associated epilepsy.

Influence of COVID-19 pandemic on quality of life in patients with epilepsy - Follow-up study.

OBJECTIVE: To perform a follow-up study of the quality of life in patients with epilepsy in the era of the COVID-19 crisis. METHODS: Two months before the first case of the COVID-19 in Serbia, we obtained the Serbian Version of Quality of Life Inventory for Epilepsy 31 (SVQOLIE-31) and Neurological Disorders Depression Inventory for Epilepsy scores (SVNDDI-E) for another study. We retested the same patients one year after in COVID-19 pandemic. In addition to SVQOLIE-31, and SVNDDI-E we used a generic questionnaire compiled from items related to the COVID-19. RESULTS: We retested 97 out of 118 patients (82.2%) for the follow-up analysis. The average age was 36.1 ±â€¯12.2 (range: 18-69), and 49 were women (50.5%). The median duration of epilepsy was 13 years (range: 1.5-48). The structural etiology of epilepsy was noted in 41 (42.3%), unknown etiology in 41 (42.3%), and genetic etiology in 15 (15.4%) patients. Fewer patients (27.8%) experienced at least one seizure three months before follow-up testing when compared to patients who experienced at least one seizure three months in initial testing (36.0%) (p = 0.15). All patients reported full compliance with anti-seizure medication in the follow-up. The SVQOLIE-31 score during the COVID-19 pandemic visit (64.5 ±â€¯14.6) was significantly lower than the SVQOLIE-31 score before the pandemic (p < 0.001). The SVNDDI-E score during the COVID-19 pandemic (10.5 ±â€¯3.5) was significantly higher than the SVNDDI-E score before it (p < 0.001). Multiple linear regression analyses revealed fear of seizures, and fear of a reduction in household income, significantly associated with SVQOLIE-31 and SVNDDI-E overall score. These variables accounted for 66% and 27% of the variance of SVQOLIE-31 and SVNDDI-E overall score. SIGNIFICANCE: Lower quality of life, higher prevalence of depression, healthcare availability issues, and perceived fears during pandemic all suggest COVID-19 has negatively impacted lives of patients with epilepsy.

Validation of the Serbian version of the Liverpool Adverse Events Profile of antiseizure therapy in patients with epilepsy.

The Liverpool Adverse Event Profile (LAEP) is a useful instrument in assessing the consequences of adverse events in patients using antiseizure medication. The LAEP scale has been validated in several languages to date. The aim of our study was to validate the LAEP scale in the Serbian language (SVLAEP). Validation of the SVLAEP scale was conducted by translating the original English version into the Serbian language and backtranslated into the English language. The translation was accepted when the two versions of the text were compatible. The questionnaire is then given to a group of patients with epilepsy treated with a stable dose of antiseizure medication. For the assessment of the quality of life and depression, we used the Serbian version of the Quality of Life in Epilepsy Inventory-31 (SVQOLIE-31) and the Serbian version of the Neurological Disorders Depression Inventory for Epilepsy (SVNDDI-E). From a total of 166 patients, 118 patients were included, and the remaining 48 were excluded because of other comorbidities and using other psychotropic drugs. Internal consistency (Cronbach's α = 0.87) and test-retest reliability (intraclass correlation coefficient (ICC) = 0.80) were satisfactory. The SVLAEP and SVQOLIE-31 had a strong negative statistical correlation (rs = -0.73; p < 0.001). The SVLAEP and SVNDDI-E final scores had a positive moderate correlation (rs = 0.52; p < 0.001). A moderate negative statistical correlation was found between SVNDDI-E and SVQOLIE-31 (rs = -0.56; p < 0.001). Our study showed that the LAEP scale is a useful indicator for the frequency of the adverse events in antiepileptic drug (AED) usage, despite a minor overlap with the symptoms of depression.

Surgical management of meningoencephalocele in temporal bone associated with pharmacoresistant epilepsy: report of two cases.

We report good outcome after surgical treatment of two patients with meningoencephalocele associated with pharmacoresistant temporal lobe epilepsy. Surgical management of meningoencephaloceles may result in seizure freedom, although optimal surgical strategy is still controversial.

Differential diagnosis of a paroxysmal neurological event: Do neurologists know how to clinically recognize it?

PURPOSE: To investigate ability to recognize paroxysmal neurological events (PNE) based on video-recorded events alone in a group of physicians treating prevalent neurological conditions. METHODS: Total of 12 patients' videos (6 epileptic seizures (ES), 4 psychogenic nonepileptic seizures (PNES), 2 other nonepileptic seizures (oNES)) were selected. Videos were displayed once to physicians blind to clinical data and final diagnosis. Physicians determined their clinical choice: ES, PNES, oNES, and I don't know (IDK). When ES was chosen, subjects determined type of ES: focal ES, secondary generalized tonic-clonic seizure (GTCS), primary GTCS, and IDK. RESULTS: In total 145 physicians (62% female, mean age 46.2±9years) (neurologists 58.6%, neuropsychiatrists 25.5%, psychiatrists 5%, and neurology residents 10.3%) were enrolled. Physician's exposure to patients with epilepsy per week was diverse: ≤1 patient (43.7%); 1-7 patients (37.2%); >7 patients (14.5%). Reported frequency of observation of PNE was as follows: frequent (21.4%), sometimes (47.6%); rarely (26.9%); never (2.1%). Majority of subjects were not EEG readers (60.7%). Median percentage (Mdn%) of correct answers (CA) was 75% (range 25-100). Predictor of better PNE recognition was higher frequency of clinical exposure to PNE (OR 1.65; CI95% 1.11-2.45; p=0.013). Mdn% of ES CA was 83.3%, (range 33.3-100), and of PNES CA was 50% (range 0-100). Physicians were more accurate in ES than PNES identification (p<0,001). Mdn% of type of ES CA was 50%, (range 0-100). CONCLUSIONS: We demonstrate the need for education about clinical features of PNE across subgroups of physicians who deliver neurological service, with emphasis on PNES and ES type classification.

Does facial attractiveness influence perception of epilepsy diagnosis? An insight into stigma in epilepsy.

BACKGROUND: Using a group of young healthy individuals and patients with multiple sclerosis (pMS), we aimed to investigate whether the physical attractiveness judgment affects perception of epilepsy. We tested hypothesis that subjects, in the absence of relevant clues, would catch upon the facial attractiveness when asked to speculate which person suffers epilepsy and select less attractive choices. METHOD: Two photo-arrays (7 photos for each gender) selected from the Chicago Face Database (180 neutral faces of Caucasian volunteers with unknown medical status) were shown to study participants. Photos were evenly distributed along a continuum of attractiveness that was estimated by independent raters in prestudy stage. In each photo-array, three photos had rating 1-3 (unattractive), one photo had rating 4 (neutral), and three photos had rating 5-7 (attractive). High-quality printed photo-arrays were presented to test subjects, and they were asked to select one person from each photo-array "who has epilepsy". Finally, all subjects were asked to complete questionnaire of self-esteem and 19-item Scale of stereotypes toward people with epilepsy. RESULTS: In total, 71 students of psychology, anthropology, or andragogy (mean age: 21.6±1.7years; female: 85.9%) and 70 pMS (mean age: 37.9±8years; female: 71.4%) were tested. Majority of students or pMS had no previous personal experience with individuals with epilepsy (63.4%; 47.1%, p=0.052). Male photo was selected as epileptic in the following proportions: students - 84.5% unattractive, 8.5% neutral, and 7% attractive; pMS - 62.9% unattractive, 8.6% neutral, and 28.6% attractive (p=0.003). Female photo was selected as epileptic in the following proportions: students - 38% unattractive, 52.1% neutral, and 9.9% attractive; pMS - 32.9% unattractive, 34.3% neutral, and 32.9% attractive (0.003). Both groups showed very low potential for stigmatization: significantly lower in pMS in 10 items. Patients with multiple sclerosis showed significantly higher self-esteem than students (p=0.007). CONCLUSION: Facial attractiveness influences the perception of diagnosis of epilepsy. Both students and pMS were less willing to attribute epilepsy to attractive person of both genders.

Validation of the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) Serbian version.

The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) was developed and proven efficient for the rapid detection of a major depressive episode in people with epilepsy. This study describes the development, validation, and psychometric properties of the NDDI-E Serbian version. A consecutive sample of 103 patients with epilepsy was assessed using the Beck Depression Inventory (BDI) and the NDDI-E. All patients had no major difficulties in understanding or answering the questions of the Serbian version. Cronbach's alpha coefficient was 0.763. Receiver operating characteristic analysis showed an area under the curve of 0.943 (95% CI; 0.826 to 0.951), a cutoff score of ≥14, a sensitivity of 72.2%, a specificity of 95.2%, a positive predictive value of 81.3%, and a negative predictive value of 94.3%. The NDDI-E Serbian version scores were significantly and positively correlated with those of the BDI (p<0.001). The NDDI-E Serbian version constitutes a concise and consistent depression screening instrument for patients with epilepsy.

Metals and electrolytes in sclerotic hippocampi in patients with drug-resistant mesial temporal lobe epilepsy.

An altered metal and electrolyte profile has been implicated in the pathologic mechanisms of chronic epilepsy; however, no study has comprehensively measured hippocampal concentrations of these elements in patients with mesial temporal lobe epilepsy and hippocampal sclerosis (mTLE-HS). We therefore analyzed hippocampi of 24 patients with drug-resistant mTLE-HS (mean age 35.6 ± 9.4 years) who underwent anterior temporal lobe resection and amygdalohippocampectomy and 17 hippocampi obtained by autopsy from 13 controls (mean age 40.5 ± 12.9 years), using inductively coupled plasma optical emission spectrometry (ICP-OES). Epileptic hippocampi showed significantly lower concentrations (µg/g of tissue) of copper (HS: 2.34 ± 0.12; control [C]: 3.57 ± 0.33; p < 0.001), manganese (HS: 0.205 ± 0.030; C: 0.409 ± 0.064; p = 0.004), and potassium (HS: 2,001 ± 59; C: 2,322 ± 61; p < 0.001), and increased sodium levels (HS: 1,131 ± 22; C: 1,040 ± 25; p = 0.010). Zinc, iron, calcium, and magnesium levels did not differ in HS and controls. In summary, copper and manganese levels are deficient, whereas iron level is unchanged in hippocampi from patients with mTLE-HS. Our results provide a basis for understanding the potential involvement of different metals and electrolytes in the pathology of HS.

Familial occurrence of seizure disorders across MRI defined structural focal epilepsy etiology.

BACKGROUND: Previous studies have established familial occurrence of epilepsy and seizure disorders and early age of epilepsy onset as predictors of genetic epilepsy, but have not evaluated the rate of their occurrence in patients with different epilepsy etiology. Our study determines the distribution of familial occurrence and age of epilepsy onset across structural focal epilepsy (FE) etiology in a large FE cohort. METHODS: Records of 1354 consecutive patients evaluated for epilepsy and seizure disorders in The Neurology Clinic, University Clinical Center of Serbia from 2008 to 2019 were screened for FE. Structural etiology, lobar diagnosis, familial occurrence, and age at epilepsy onset were determined. Patients with a. nonlesional focal epilepsy (NLFE), b. hippocampal sclerosis (HS) and c. congenital or perinatal etiology (CPE) were classified as NAFE, while patients with an identified acquired focal epilepsy (AFE) constituted the control group. RESULTS: We identified 965 patients with FE, 329 (34.1 %) with NLFE, 213 (22.1 %) with HS, 174 (18.0 %) with CPE and 249 (25.8 %) with AFE. Familial occurrence was identified in 160 (16.6 %), 19.1 % of patients with NAFE and 9.2 % of AFE (p = 0.003). Patients with NAFE had a younger age of epilepsy onset (13 vs. 18 years, p < 0.001). The highest proportion of familial occurrence was found in patients with NLFE (23.7 %), while the youngest median age of epilepsy onset was identified in patients with HS (12 years) and CPE (11 years). CONCLUSION: Patients with NAFE frequently have familial occurrence of epilepsy and have an earlier age of epilepsy onset than patients with AFE.

PETSurfer-Based Brain Segmentation in Patients with Temporal Lobe Epilepsy and Associated Hippocampal Sclerosis.

PURPOSE: In a homogeneous cohort of mesial temporal lobe epilepsy (mTLE) patients with hippocampal sclerosis (HS), this study utilizes the PETSurfer method to quantify and localize areas of cerebral hypometabolism. METHODS: We selected patients from the University Clinical Center of Serbia who all underwent anterior temporal lobectomy with amygdalohippocampectomy and achieved seizure freedom (Engel class I). Our analysis involved integrating FDG-PET and MRI imaging to compare glucose metabolism between the hemispheres ipsilateral and contralateral to HS. RESULTS: The quantitative PETSurfer approach identified significant hypometabolism restricted to the ipsilateral temporal lobe structures-the amygdala, hippocampus, temporal pole, superior and middle temporal gyrus-and the ipsilateral thalamus. The lack of significant hypometabolism in extratemporal regions indicates that these 'pure' mTLE cases may not involve the broader network disruptions typically associated with more extensive epileptic pathologies. The effect sizes ranged from small to medium, indicating variable degrees of metabolic reduction across different structures. CONCLUSION: These findings highlight the localized nature of the epileptogenic focus in HS-related mTLE with good surgical outcome. However, the small sample size and potential cohort bias, necessitate caution in generalizing these results. Future research would benefit from a comparative approach incorporating a control group, providing a broader context for interpreting these hypometabolic patterns.

Novel variants in established epilepsy genes in focal epilepsy.

INTRODUCTION: Next generation sequencing (NGS) has greatly expanded our understanding of genetic contributors in multiple epilepsy syndromes, including focal epilepsy. Describing the genetic architecture of common syndromes promises to facilitate the diagnostic process as well as aid in the identification of patients who stand to benefit from genetic testing, but most studies to date have been limited to examining children or adults with intellectual disability. Our aim was to determine the yield of targeted sequencing of 5 established epilepsy genes (DEPDC5, LGI1, SCN1A, GRIN2A, and PCHD19) in an extensively phenotyped cohort of focal epilepsy patients with normal intellectual function or mild intellectual disability, as well as describe novel variants and determine the characteristics of variant carriers. PATIENTS AND METHODS: Targeted panel sequencing was performed on 96 patients with a strong clinical suspicion of genetic focal epilepsy. Patients had previously gone through a comprehensive diagnostic epilepsy evaluation in The Neurology Clinic, University Clinical Center of Serbia. Variants of interest (VOI) were classified using the American College of Medical Genetics and the Association for Molecular Pathology criteria. RESULTS: Six VOI in eight (8/96, 8.3%) patients were found in our cohort. Four likely pathogenic VOI were determined in six (6/96, 6.2%) patients, two DEPDC5 variants in two patients, one SCN1A variant in two patients and one PCDH19 variant in two patients. One variant of unknown significance (VUS) was found in GRIN2A in one (1/96, 1.0%) patient. Only one VOI in GRIN2A was classified as likely benign. No VOI were detected in LGI1. CONCLUSION: Sequencing of only five known epilepsy genes yielded a diagnostic result in 6.2% of our cohort and revealed multiple novel variants. Further research is necessary for a better understanding of the genetic basis in common epilepsy syndromes in patients with normal intellectual function or mild intellectual disability.

Cerebral Amyloid Angiopathy-Related Inflammation (CAA-rI): Three Heterogeneous Case Reports and a Focused Literature Review.

Cerebral amyloid angiopathy-related inflammation (CAA-rI) is a largely reversible, subacute encephalopathy, which is considered as a rare variant of cerebral amyloid angiopathy (CAA). Although the diagnosis of this inflammatory vasculopathy is generally clinico-pathologic, a probable or possible diagnosis can often be established based on current clinico-radiological diagnostic criteria. This is important since CAA-rI is considered as a treatable disorder, which most commonly occurs in the elderly population. Behavioral changes and cognitive deterioration are highlighted as the most common clinical signs of CAA-rI, followed by a heterogeneous spectrum of typical and atypical clinical presentations. However, despite the well-established clinical and radiological features incorporated in the current diagnostic criteria for this CAA variant, this rare disorder is still insufficiently recognized and treated. Here, we have shown three patients diagnosed with probable CAA-rI, with significant heterogeneity in the clinical and neuroradiological presentations, followed by different disease courses and outcomes after the introduction of immunosuppressive treatment. Moreover, we have also summarized up-to-date literature data about this rare, yet underdiagnosed, immune-mediated vasculopathy.

Large-Vessel Giant Cell Arteritis following COVID-19-What Can HLA Typing Reveal?

Giant cell arteritis (GCA) is an immune-mediated vasculitis that affects large arteries. It has been hypothesized that viruses may trigger inflammation within the vessel walls. Genetic studies on human leukocyte antigens (HLAs) have previously reported HLA-DRB1*04 as a susceptible allele for GCA and HLA-DRB1*15 as a protective allele for GCA. Here, we discuss the clinical presentation, laboratory findings, HLA class I and class II analysis results, and management of patients with extracranial large-vessel (LV) GCA, detected at least six weeks after recovery from COVID-19. This case series encompassed three patients with LV-GCA (two males and a female with an age range of 63-69 years) whose leading clinical presentation included the presence of constitutional symptoms and significantly elevated inflammatory markers. The diagnosis of LV-GCA was confirmed by CT angiography and FDG-PET/CT, revealing inflammation in the large vessels. All were treated with corticosteroids, while two received adjunctive therapy. By analyzing HLA profiles, we found no presence of the susceptible HLA-DRB1*04 allele, while the HLA-DRB1*15 allele was detected in two patients. In conclusion, LV-GCA may be triggered by COVID-19. We highlight the importance of the early identification of LV-GCA following SARS-CoV-2 infection, which may be delayed due to the overlapping clinical features of GCA and COVID-19. The prompt initiation of therapy is necessary in order to avoid severe vascular complications. Future studies will better define the role of specific HLA alleles in patients who developed GCA following COVID-19.

Ictal dystonia and secondary generalization in temporal lobe seizures: a video-EEG study.

The aim of this study was to determine whether the occurrence of unilateral ictal limb dystonia (ID) during complex partial seizures (CPS) reduces the possibility of contralateral propagation (CP) and secondary generalization (SG) in patients with temporal lobe epilepsy (TLE). We assessed 216 seizures recorded in 33 patients with pharmacoresistant TLE. All patients underwent video-EEG telemetry prior to surgical treatment with good postoperative outcomes (Engel I). Ictal limb dystonia was observed in 16 of the 33 patients (48%) and 58 of the 216 seizures (26.8%). We found highly significant differences in the frequency of SG between seizures with ID and seizures without ID (2/58 vs. 41/158; 3.45% vs. 25.95%; p<0.001). Contralateral propagation was seen in 13 of the 57 analyzed seizures with ID compared to 85 of the 158 seizures without ID (22.8% vs. 53.8%; p<0.001). Among the CPS without SG, we found that the mean duration of seizures with ID was significantly longer than the duration of seizures without ID (81.66±40.10 vs. 68.88±25.01 s; p=0.011). Our findings that CP and SG occur less often in patients with ID, yet the duration of CPS without SG is longer in patients with ID, suggest that the basal ganglia might inhibit propagation to the contralateral hemisphere but not ictal activity within the unilateral epileptic network.

Bálint-like syndrome as an unusual representation of non-convulsive status epilepticus.

The clinical signs of posterior cortex dysfunction are, due to their paucity and subtlety, very often ignored as non-specific during clinical evaluation of non-convulsive status epilepticus. Therefore, focal non-convulsive status epilepticus emerging from the posterior cortex, and especially the parietal lobes, can be fairly under-recognised. We report a 66-year-old patient with focal non-convulsive status epilepticus presenting as isolated Bálint-like syndrome, successfully treated to full clinical and electrophysiological recovery. The diagnostic and pathophysiological features are discussed. Focal non-convulsive status epilepticus can be associated with negative phenomena such as neuropsychological deficits mimicking those detected more often in degenerative and vascular brain diseases. [Published with video sequences].

Focal to bilateral motor seizures in temporal lobe epilepsy during video-EEG monitoring: effects on surgical outcome.

The aim of this study was to determine whether the occurrence of focal to bilateral motor seizures in the course of partial drug withdrawal during video-EEG monitoring (FTBMS-M) had a predictive value for seizure recurrence in surgically treated patients with mesial temporal lobe epilepsy (MTLE). We analyzed the outcomes of 59 patients who underwent temporal lobe resection at 12 month postoperative follow up. In total, 48 out of 59 patients were rendered seizure free (81.4%). We analyzed seizure recurrence after surgery with reference to: (i) occurrence of seizures after partial drug withdrawal during video-EEG monitoring (FTBMS-M); (ii) history of secondarily generalized seizures during antiepileptic drug treatment prior to presurgical evaluation (FTBMS-H) and (iii) other possible confounding factors (sex, age, epilepsy duration, side of surgery, presence of hippocampal sclerosis, and history of febrile seizures). We found no differences in the frequency of seizure recurrences between patients with FTBMS-M and patients without FTBMS-M (4/20 vs. 7/39; p = 0.848). Conversely, the frequency of seizure recurrence was significantly higher among the patients with FTBMS-H than among the patients without FTBMS-H (7/20 vs. 4/39; p = 0.021). The predictive value of FTBMS-H for postoperative seizure recurrence was confirmed in logistic regression analysis. We found a statistically significant influence of FTBMS-H on poor outcome after surgery, but not of FTBMS-M or other confounding variables, which suggests that withdrawal seizures do not affect postsurgical seizure control.

Long-term survival in patients with status epilepticus: a tertiary referral center study.

PURPOSE: To determine long-term survival in patients with status epilepticus (SE). METHODS: We prospectively followed patients admitted for the first (69.6%) or recursive episode of SE between January 1, 1989 and December 31, 1997 at the Institute of Neurology, Belgrade, Serbia, until death or study termination (December 31, 2006). Data were obtained for cause of death; etiology of SE-acute symptomatic (AS), progressive symptomatic (PS), remote symptomatic (RS), and idiopathic/cryptogenic (I/C); presence of epilepsy; and reoccurrence of SE. Standardized mortality rate (SMR), survival, and regression analysis were used. RESULTS: A total of 120 of 750 patients with an episode of SE (15.9%) died in the 30-day period following SE. Data for 207 of 630 (32.8%) surviving patients (35.7% with initial SE) were available at the end of follow-up [median 12 years; 95% confidence interval (CI) 11.1-12.8]. SMR was significantly increased (SMR = 1.81; 95% CI 1.32-2.41). There were 46 deaths (22.2%): 15 of 65 in the AS, 20 of 29 in the PS, 6 of 29 in the RS, and 5 of 75 in the I/C groups. Five-year survival rate was lowest in the PS (45%) compared to AS (91%), RS (87%), and I/C (99%) groups. The following characteristics increased long-term risk for mortality: older age [Exp(B) 1.05, 95% CI 1.029-1.072], PS and AS etiology [Exp(B) 15.6, 95% CI 5.8-41.6; 3.3, 95% CI 1.2-9.1], presence of epilepsy [Exp(B) 2.3, 95% CI 1.2-4.3], and initial SE [Exp(B) 2.4, 95% CI 1.4-4.4]. DISCUSSION: Approximately one of five patients die within 12 years after an episode of SE. Symptomatic SE (PS and AS), initial SE, age, and presence of epilepsy are associated with long-term increased risk of death.

Focal-to-bilateral motor seizures in temporal lobe epilepsy during video-EEG monitoring: effects on surgical outcome.

The aim of this study was to determine whether the occurrence of focal-to-bilateral motor seizures in the course of partial drug withdrawal during video-EEG monitoring (FTBMS-M) had a predictive value for seizure recurrence in surgically treated patients with mesial temporal lobe epilepsy (MTLE). We analyzed the outcomes of 59 patients who underwent temporal lobe resection and had postoperative follow-up from 6 to 58 months. In total, 48 out of 59 patients were rendered seizure free (81.4%). We analyzed seizure recurrence after surgery with reference to: (i) occurrence of seizures after partial drug withdrawal during video-EEG monitoring (FTBMS-M); (ii) history of secondarily generalized seizures during antiepileptic drug treatment prior to presurgical evaluation (FTBMS-H) and (iii) other possible confounding factors (sex, age, epilepsy duration, side of surgery, presence of hippocampal sclerosis, and history of febrile seizures). We found no differences in the frequency of seizure recurrences between patients with FTBMS-M and patients without FTBMS-M (4/20 vs. 7/39; p = 0.848). Conversely, the frequency of seizure recurrence was significantly higher among the patients with FTBMS-H than among the patients without FTBMS-H (7/20 vs. 4/39; p = 0.021). The predictive value of FTBMS-H for postoperative seizure recurrence was confirmed in logistic regression analysis. We found a statistically significant influence of FTBMS-H on poor outcome after surgery, but not of FTBMS-M or other confounding variables, which suggests that withdrawal seizures do not affect post-surgical seizure control.

New-onset musicogenic epilepsy after temporal lobe epilepsy surgery.

Musicogenic epilepsy is a reflex epilepsy provoked by listening to or playing music. The epileptogenic network involves temporal regions, usually mesiotemporal structures. We present a 31-year-old female patient who experienced musicogenic seizures after a right temporal lobectomy with amygdalohippocampectomy that was performed in order to treat preexisting right mesio-temporal epilepsy.

Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.

PURPOSE: We report on genetic analysis of a complex condition in a Serbian family of four siblings, wherein two had progressive myoclonic epilepsy (PME) and congenital deafness (CD), one had isolated congenital deafness (ICD), and one was healthy. METHODS AND RESULTS: Molecular diagnosis performed by Southern blotting confirmed Unverricht-Lundborg disease in the available sibling with PME/CD. In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well. DISCUSSION: To the best of our knowledge this is the first genetic confirmation of the coexistence of these two mutations.