KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort. METHODS: Families with molecularly confirmed diagnoses of KCTD7-related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging-related variables were collected and summarized. RESULTS: Forty-two patients (36 families) were included. The median age at first seizure was 14 months (interquartile range = 11.75-22.5). Myoclonic seizures were frequently the first seizure type noted (n = 18, 43.9%). EEG and brain magnetic resonance imaging findings were variable. Many patients exhibited delayed development with subsequent progressive regression (n = 16, 38.1%). Twenty-one cases with genetic testing available (55%) had previously reported variants in KCTD7, and 17 cases (45%) had novel variants in KCTD7 gene. Six patients died in the cohort (age range = 1.5-21 years). The systematic review identified 23 eligible studies and further identified 59 previously reported cases of KCTD7-related disorders from the literature. The phenotype for the majority of the reported cases was consistent with a PME (n = 52, 88%). Other reported phenotypes in the literature included opsoclonus myoclonus ataxia syndrome (n = 2), myoclonus dystonia (n = 2), and neuronal ceroid lipofuscinosis (n = 3). Eight published cases died over time (14%, age range = 3-18 years). SIGNIFICANCE: This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7-related disorders. Early onset drug-resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials.

Is intraoperative electrocorticography (ECoG) for long-term epilepsy-associated tumors (LEATs) more useful in children?-A Randomized Controlled Trial.

OBJECTIVES: The utility of intraoperative electrocorticography (ECoG)-guided resective surgery for pediatric long-term epilepsy-associated tumors (LEATs) with antiseizure medication (ASM) resistant epilepsy is not supported by robust evidence. As epilepsy networks and their ramifications are different in children from those in adults, the impact of intraoperative ECoG-based tailored resections in predicting prognosis and influencing outcomes may also differ. We evaluated this hypothesis by comparing the outcomes of resections with and without the use of ECoG in children and adults by a randomized study. METHODS: From June 2020 to January 2022, 42 patients (17 children and 25 adults) with LEATs and antiseizure medication (ASM)-resistant epilepsy were randomly assigned to one of the 2 groups (ECoG or no ECoG), prior to surgical resection. The 'no ECoG' arm underwent gross total lesion resection (GTR) without ECoG guidance and the ECoG arm underwent GTR with ECoG guidance and further additional tailored resections, as necessary. Factors evaluated were tumor location, size, lateralization, seizure duration, preoperative antiepileptic drug therapy, pre- and postresection ECoG patterns and tumor histology. Postoperative Engel score and adverse event rates were compared in the pediatric and adult groups of both arms. Eloquent cortex lesions and re-explorations were excluded to avoid confounders. RESULTS: Forty-two patients were included in the study of which 17 patients were in the pediatric cohort (age < 18 years) and 25 in the adult cohort. The mean age in the pediatric group was 11.11 years (SD 4.72) and in the adult group was 29.56 years (SD 9.29). The mean duration of epilepsy was 9.7 years (SD 4.8) in the pediatric group and 10.96 (SD 8.8) in the adult group. The ECoG arm of LEAT resections had 23 patients (9 children and 14 adults) and the non-ECoG arm had 19 patients (8 children and 11 adults). Three children and 3 adults from the ECoG group further underwent ECoG-guided tailored resections (average 1.33 additional tailored resections/per patient.).The histology of the tailored resection specimen was unremarkable in 3/6 (50%).Overall, the commonest histology in both groups was ganglioglioma and the temporal lobe, the commonest site of the lesion. 88.23% of pediatric cases (n = 15/17) had an excellent outcome (Engel Ia) following resection, compared to 84% of adult cases (n = 21/25) at a mean duration of follow-up of 25.76 months in children and 26.72 months in adults (p = 0.405).There was no significant difference in seizure outcomes between the ECoG and no ECoG groups both in children and adults, respectively (p > 0.05). Additional tailored resection did not offer any seizure outcome benefit when compared to the non-tailored resections. CONCLUSIONS: The use of intraoperative electrocorticography in LEATs did not contribute to postoperative seizure outcome benefit in children and adults. No additional advantage or utility was offered by ECoG in children when compared to its use in adults. ECoG-guided additional tailored resections did not offer any additional seizure outcome benefit both in children and adults.

Baseline Predictors of Longitudinal Cognitive Outcomes in Persons with Mild Cognitive Impairment.

INTRODUCTION: The study aimed to explore longitudinal cognitive outcomes and to ascertain predictors of conversion to dementia in a hospital-based mild cognitive impairment (MCI) cohort classified according to the neuropsychological phenotype at baseline. MATERIALS AND METHODS: Subjects aged >55 years who had a clinical diagnosis of MCI at initial visit between 2010 and 2018, with at least one formal neuropsychological assessment at baseline and follow-up of a minimum of 2 years were included. The prospective study was completed based on evaluation at last follow-up to gauge conversion to dementia, quantification of performance on activities of daily living and when available, longitudinal neuropsychological test scores. RESULTS: Ninety-five patients with MCI met the inclusion criteria with a mean age of 68.4 ± 6.4 years at baseline and a mean duration of follow-up for 6.4 ± 3.2 years. The cumulative conversion rate to dementia was 22.2% (21/95) and the annualized conversion rate was 3.3% per year of follow-up. The majority of subjects who had converted had multidomain MCI (66%). Only white matter changes on MRI brain revealed correlation with baseline neuropsychology tests. The multivariate logistic regression analysis revealed the utility of lower baseline list recognition (adjusted odds ratio: 0.735 [95% confidence interval: 0.589-0.916]; p 0.006), lower immediate logical memory (0.885 [0.790-0.990]; p 0.03), and high perseverative error scores on set shifting (3.116 [1.425-6.817]; p 0.004) as predictors of conversion. A model score of +2.615 could predict conversion with sensitivity of 72% and specificity of 98% over 6.4 years follow-up. CONCLUSION: There was a higher risk of conversion associated with multidomain MCI. Logistic regression-based estimations of dementia risk utilizing domain-based neuropsychology test scores in MCI have high specificity for diagnosis at baseline.

Satisfaction among persons with epilepsy towards physical consultation versus online video consultation for follow-up.

PURPOSE: Telemedicine gained popularity in the setting of the COVID-19 pandemic. We aimed to study the satisfaction levels of persons with epilepsy (PWE) with online video consultation (OVC) and physical consultation (PC). METHODS: This was a cross-sectional questionnaire-based study conducted in a tertiary referral care center for epilepsy in India. All PWE who had availed of both OVC and PC were included. Those who did not give consent to a questionnaire were excluded. A questionnaire was given to assess patients' satisfaction regarding OVC and PC. Scores for each question for both OVC and PC were compared. RESULTS: One hundred and forty-one patients who had PC earlier and later availed of OVC from December 2020 to July 2021 formed the cohort. Seventy one patients who responded to the questionnaire were included. 49% and 51% of the patients belonged to urban and rural regions respectively. 8.5% of the patients were off anti-seizure medications (ASM), while 5.6% and 85.9% were on single and multiple ASMs respectively. There were no differences between PC and OVC regarding ease of getting the appointment, privacy during a consultation, patients' perceived chances of missing consultations, and overall comfort and experience on either type of consultation. Physical consultation scored more than OVC in patients' satisfaction with the time doctor spent with them, an opportunity to communicate their queries well, clarifications received from the doctor, and the likelihood of patients recommending the particular type of consultation to others(p < 0.05). CONCLUSIONS: Online video consultation can be a satisfactory alternative to PC and can improve patient satisfaction if some of the issues in OVC are addressed properly.

Alterations in Resting-State Functional MRI Connectivity Related to Cognitive Changes in Intracranial Dural Arteriovenous Fistulas Before and After Embolization Treatment.

BACKGROUND: Cognitive decline is a non-hemorrhagic, major complication of intracranial dural arteriovenous fistula (DAVF), thought to be primarily related to venous hypertension. However, imaging features to predict cognitive decline are scanty in the literature. PURPOSE: To evaluate functional connectivity (FC) changes of resting-state networks (RSNs) in DAVF before and after treatment and its relation to cognitive impairment. STUDY TYPE: Prospective. SUBJECTS: DAVF subjects were screened for inclusion. Pre-embolization (N = 33, mean age 45.9 years, 29 males), 1 month post-embolization (N = 20, mean age 42.7 years, 19 males), and healthy controls (HC, N = 33, mean age 45.09 years, 27 males). FIELD STRENGTH/SEQUENCE: 3.0 T, resting-state functional magnetic resonance imaging (MRI), three-dimensional (3D) T1, T2 fast spin echo (FSE), diffusion weighted imaging (DWI), susceptibility weighted imaging (SWI), fluid-attenuated inversion recovery, and time of flight. ASSESSMENT: Data quality assessment was performed. FC analysis was done using group independent component analysis (ICA) and seed to voxel analysis. Neuropsychology (NP) scores of patients were compared with HC and correlated with FC changes. STATISTICAL TESTS: Voxel-wise parametric T-statistics for F-test was executed in FC analysis (p-FDR corrected <0.05). NP scores between DAVF group and HC group were compared using one-way analysis of variance with post hoc Bonferroni correction (P < 0.05). RESULTS: Both RSNs analysis methods showed reduced FC at the precuneus-posterior cingulate cortex (PC-PCC) of default mode network (DMN), anterior cingulate cortex (ACC) of the salience network (SN), and possible compensatory increased connectivity at the frontoparietal (FPN) and dorsal attention (DAN) networks. DAVF with low NP scores showed reduced FC at DMN and SN and minimal to absent connectivity at FPN and DAN. At post-embolization 1-month follow-up, improvement in FC at PC-PCC of DMN and ACC of SN were noted. DATA CONCLUSION: RS-fMRI in DAVF displayed FC changes that may be related to cognitive decline and its subsequent reversibility after treatment. FC changes at DMN, SN, FPN, and DAN were linked to cognitive decline and the corresponding NP scores. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY: Stage 2.

Utility of 18F-fluorodeoxyglucose positron emission tomography in presurgical evaluation of patients with epilepsy: A multicenter study.

OBJECTIVE: 18F-Fluorodeoxyglucose positron emission tomography (FDG-PET) is widely used in presurgical assessment in patients with drug-resistant focal epilepsy (DRE) if magnetic resonance imaging (MRI) and scalp electroencephalography (EEG) do not localize the seizure onset zone or are discordant. METHODS: In this multicenter, retrospective observational cohort study, we included consecutive patients with DRE who had undergone FDG-PET as part of their presurgical workup. We assessed the utility of FDG-PET, which was defined as contributing to the decision-making process to refer for resection or intracranial EEG (iEEG) or to conclude surgery was not feasible. RESULTS: We included 951 patients in this study; 479 had temporal lobe epilepsy (TLE), 219 extratemporal epilepsy (ETLE), and 253 epilepsy of uncertain lobar origin. FDG-PET showed a distinct hypometabolism in 62% and was concordant with ictal EEG in 74% in TLE and in 56% in ETLE (p < .001). FDG-PET was useful in presurgical decision-making in 396 patients (47%) and most beneficial in TLE compared to ETLE (58% vs. 44%, p = .001). Overall, FDG-PET contributed to recommending resection in 78 cases (20%) and iEEG in 187 cases (47%); in 131 patients (33%), FDG-PET resulted in a conclusion that resection was not feasible. In TLE, seizure-freedom 1 year after surgery did not differ significantly (p = .48) between patients with negative MRI and EEG-PET concordance (n = 30, 65%) and those with positive MRI and concordant EEG (n = 46, 68%). In ETLE, half of patients with negative MRI and EEG-PET concordance and three quarters with positive MRI and concordant EEG were seizure-free postsurgery (n = 5 vs. n = 6, p = .28). SIGNIFICANCE: This is the largest reported cohort of patients with DRE who received presurgical FDG-PET, showing that FDG-PET is a useful diagnostic tool. MRI-negative and MRI-positive cases with concordant FDG-PET results (with either EEG or MRI) had a comparable outcome after surgery. These findings confirm the significance of FDG-PET in presurgical epilepsy diagnostics.

Can occurrence of convulsive status epilepticus during video telemetry be predicted? Observations from an epilepsy monitoring unit.

PURPOSE: The objective of the study was to evaluate the frequency, clinical, and video-electroencephalographic (VEEG) predictors of convlusive status epilepticus (CSE) in the epilepsy-monitoring unit (EMU). METHODS: The data of all patients who had CSE in our EMU between 2008 and 2017 were reviewed. For each case, two age- and diagnosis-matched subjects who underwent VEEG and did not develop CSE were taken as internal controls. Electro-clinical data of both the groups were compared. Predictors of CSE were assessed using logistic regression analysis. RESULTS: Out of 11,188 video-telemetries were conducted between 2008-17, forty-three events of CSE (0.38%) were recorded. On comparisons with 86 internal controls no differences were apparent on prevalence of cognitive impairment, structural lesion, number of baseline anti-seizure medications (ASM), ASM taper schedule, ictal patterns, and duration of VEEG monitoring. Inter-ictal rhythmic periodic patterns had significantly higher prevalence in cases (p = 0.028). Logistic regression analysis revealed that odds of CSE were higher with past history of SE [p = 0.008; adjusted odds ratio (OR) = 5.48 (confidence intervals {CI} 1.55-19.28)] and in presence of rhythmic spike and wave discharges [p = 0.016, OR = 33.518(CI = 1.93-581.4)]; the odds were lower if the first two seizures recorded did not evolve into CSE [p = 0.009, OR = 0.247 (CI = 0.08-0.70)] and if there was prior history of daily seizures [p = 0.02, OR = 0.250 (CI = 0.07-0.84)]. CONCLUSION: CSE is a rare yet important adverse event in EMU. Clinical predictors are more relevant in comparison to EEG variables. Extent of ASM withdrawal may not directly account for occurrence of CSE; factors inherent to a patient's epilepsy are deterministic.

How does "locus of control" affect persons with epilepsy?

PURPOSE: Locus of control (LOC) is the degree to which people believe that they have control over the outcome of events in their lives. A person's locus can be internal, external, or chance. A person with internal locus of control believes that one can control one's own life. A person with external locus of control believes that his life is controlled by external factors or people over which he has no influence. A person with chance locus of control believes that fate, chance, or luck controls his own life. The aim of the current study was to determine the health locus of control, anxiety, and depression levels in persons with epilepsy (PWE) and to assess whether locus of control has relation to anxiety, depression, and seizure control. METHODS: Patients aged 18 years or older with a history of epilepsy for at least 1 year were recruited from the outpatient epilepsy clinic or from the inpatient epilepsy monitoring unit at SCTIMST, Trivandrum from January 2019 to May 2020. Patients filled the questionnaire form consisting of demographic data, age of onset of seizures, present seizure control, and the current antiepileptic drugs. The Hospital Anxiety and Depression (HAD) scale was used to estimate the level of anxiety and depression in these patients. The Form-C of the Multidimensional Health Locus of Control (MHLC) scale was used to evaluate the health locus of control. Healthy controls aged 18 years or older and free of any chronic disease or psychiatric illness were also recruited. They were asked to fill the questionnaire forms with basic demographic data. HAD scale was used to estimate the level of anxiety and depression and form-C of MHLC was used to evaluate the health locus of control in the healthy controls. The mean scores of anxiety, depression, and locus of control were compared between the two groups. RESULTS: A total of 170 participants were recruited which consisted of 100 PWE and 70 healthy controls. The mean anxiety and depression scores were 8.13(SD = 4.23) and 5.85(SD = 3.66) in the PWE group and 6.75(SD = 3.39) and 4.14(SD = 2.96) in the control group, respectively. The mean internal, external, and chance LOC scores were 24.95(SD = 10.92), 26.94(SD = 4.96), and 24.41(SD = 6.46) in the PWE group; and 29.44(SD = 5.62), 26.53(SD = 5.79), and 19.9(SD = 7.13) in the control group, respectively. Persons with epilepsy had higher chance LOC scores and lower internal LOC scores compared to controls (p = 0.00003, p < 0.00001 respectively). There were no differences in the external LOC scores between the two groups (p = 0.620). Persons with epilepsy with some level of anxiety had lower internal LOC scores compared to patients with no anxiety (p = 0.04). PWE with poor seizure control had higher external LOC score and lower internal LOC scores which however did not reach statistical significance. Persons with epilepsy with poor seizure control had higher anxiety and depression scores. CONCLUSIONS: Persons with epilepsy had low perceptions of internal and strong perceptions of chance health locus of control. This means that PWE feel that luck plays an important role in their disease control. This information is important in the counseling of persons with epilepsy.

Impaired intrinsic functional connectivity among medial temporal lobe and sub-regions related to memory deficits in intracranial dural arteriovenous fistula.

PURPOSE: The functional changes concerning memory deficits in dural arteriovenous fistula (dAVF) brain are inadequately understood. This study aimed to understand the functional connectivity alterations of brain regions widely affirmed for explicit and implicit memory functions in dAVF patients (DP) and look into the frequency effects of the altered functional networks. METHODS: Resting-state functional magnetic resonance imaging (rsfMRI) analysis was done in the memory-associated regions of 30 DP and 30 healthy controls (HC). Frequency decomposition was used to determine potential frequency-dependent functional connectivity changes. They underwent neuropsychological tests and were correlated with changes in memory networks compared with HC. RESULTS: The results showed weaker functional connectivity among the medial temporal lobe and sub-regions in DP suggestive of dysfunction of explicit and implicit memory functions, which corroborated with the positive correlation between memory scores and hippocampal-parahippocampal connectivity of DP, along with a significant group difference of lower memory and cognitive performance in DP assessed by neuropsychological tests. A frequency-dependent study of the altered rsFC revealed lower functional connectivity strength and impaired neural coupling manifested at some sub-band frequencies indicative of disturbed cortical rhythm in DP. CONCLUSION: This pilot study gives insights into significant intrinsic functional connectivity changes in the memory regions of the dAVF brain. The results may have clinical implications in the choice of interventional management of dAVF and can impact clinical decision making for realizable prevention of progressive memory impairment and irreversible brain damage in such patients.

Adult-onset subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a lethal slow viral disease of the central nervous system caused by a defective measles virus. The onset is mostly in childhood, manifesting clinically as decline in academic performance, behavioural changes, motor dysfunction and myoclonus. Adult-onset SSPE is rare and can present as rapidly progressive dementia. We present a young man of Indian origin with adult-onset SSPE with rapidly progressive dementia but no localising neurological signs. The diagnostic clues were parieto-occipital white matter changes on MR brain scan and history of childhood fever with rash. High titres of antimeasles antibody in cerebrospinal fluid confirmed the diagnosis. The long latency from primary measles virus infection to symptom onset can be misleading in adults. SSPE should be considered in adults with dementia, especially in tropical countries where vaccination coverage is suboptimal.

Validation of Indian Council of Medical Research Neurocognitive Tool Box in Diagnosis of Mild Cognitive Impairment in India: Lessons from a Harmonization Process in a Linguistically Diverse Society.

BACKGROUND/AIMS: In a linguistically diverse country such as India, challenges remain with regard to diagnosis of early cognitive decline among the elderly, with no prior attempts made to simultaneously validate a comprehensive battery of tests across domains in multiple languages. This study aimed to determine the utility of the Indian Council of Medical Research-Neurocognitive Tool Box (ICMR-NCTB) in the diagnosis of mild cognitive impairment (MCI) and its vascular subtype (VaMCI) in 5 Indian languages. METHODS: Literate subjects from 5 centers across the country were recruited using a uniform process, and all subjects were classified based on clinical evaluations and a gold standard test protocol into normal cognition, MCI, and VaMCI. Following adaptation and harmonization of the ICMR-NCTB across 5 different Indian languages into a composite Z score, its test performance against standards, including sensitivity and specificity of the instrument as well as of its subcomponents in diagnosis of MCI, was evaluated in age and education unmatched and matched groups. RESULTS: Variability in sensitivity-specificity estimates was noted between languages when a total of 991 controls and 205 patients with MCI (157 MCI and 48 VaMCI) were compared due to a significant impact of age, education, and language. Data from a total of 506 controls, 144 patients with MCI, and 46 patients with VaMCI who were age- and education-matched were compared. Post hoc analysis after correction for multiple comparisons revealed better performance in controls relative to all-cause MCI. An optimum composite Z-score of -0.541 achieved a sensitivity of 81.1% and a specificity of 88.8% for diagnosis of all-cause MCI, with a high specificity for diagnosis of VaMCI. Using combinations of multiple-domain 2 test subcomponents retained a sensitivity and specificity of >80% for diagnosis of MCI. CONCLUSIONS: The ICMR-NCTB is a "first of its kind" approach at harmonizing neuropsychological tests across 5 Indian languages for the diagnosis of MCI due to vascular and other etiologies. Utilizing multiple-domain subcomponents also retains the validity of this instrument, making it a valuable tool in MCI research in multilingual settings.

Personality disorders in temporal lobe epilepsy: What do they signify?

OBJECTIVES: To estimate the prevalence of personality disorders in patients with temporal lobe epilepsy (TLE) with mesial temporal sclerosis (MTS) and compare it with general population and analyze their implications on treatment outcome. MATERIALS AND METHODS: TLE was diagnosed based on clinical history, MRI, and Video EEG data. IPDE-ICD10 screening questionnaire was applied to investigate personality disorder in 120 subjects, 60 cases, and 60 normal controls. Bear-Fedio inventory (BFI) was used to study different behavior traits in patients with TLE and controls. RESULTS: Prevalence of personality disorders was higher (71.7% in cases versus 38.3% in controls) in patients with TLE compared to controls (P < .001). Some personality traits like schizoid (P = .002), dissocial (P = .001), impulsive (P = .003), anankastic (P < .001), anxious (P < .001), and dependent (P < .001) personalities were found to have high prevalence in TLE. Personality disorder was higher among those cases who had been tried on more than two antiepileptic drugs (AEDs) (P = .033) and in those with duration of illness more than 10 years (P = .026). Cases also showed significantly higher score in BFI for all behavioral traits except for aggression. No significant difference of BFI score was seen based on laterality of epileptic focus, gender, duration of illness, or number of AEDs tried. CONCLUSION: There is a significantly higher prevalence of personality disorders in patients with TLE. Specific interventions for these disorders should be considered at the earliest pari passu with AEDs and surgery.

Seizure outcome and its predictors after frontal lobe epilepsy surgery.

OBJECTIVES: Frontal lobe epilepsy (FLE) surgery is the second most common focal resective surgery for drug-resistant epilepsy. Not many studies are available regarding the long-term surgical outcome of FLE. We studied the longitudinal outcome and predictors of seizure outcome following FLE surgery in a sizeable cohort of patients. MATERIALS & METHODS: A total of 73 consecutive patients who underwent FLE surgery between January 1997 and May 2015 with a minimum follow-up of 1 year (range 1-16 years) were studied. Primary outcome was seizure freedom at last follow-up (Engel Class IA). "Seizure freedom" separately was defined as absence of seizures till last follow-up. Outcome predictors were subjected to multivariate analysis. Using Kaplan-Meier curve, we assessed the post-operative seizure freedom over time. RESULTS: Twenty-five patients (34%) were seizure-free till last follow-up. The seizure freedom was 45%, 34%, 26%, 20% and 14% at the end of 1st, 2nd, 3rd, 4th and 5th post-operative year, respectively. Engel class I outcomes were 48%, 41%, 56%, 57% and 53% at end of 1st, 2nd, 3rd, 4th and 5th post-operative year, respectively. Predictors of seizure recurrence on multivariate analysis were older age at surgery (P = 0.032), longer duration of epilepsy (P = 0.031), presence of interictal epileptiform discharges in post-operative EEG on 7th day (P = 0.005), 3 months (P = 0.005) and 1 year (P = 0.0179). In subgroup analysis, duration of epilepsy of less than 2 years before surgery was a significant predictor for achieving seizure freedom (P = 0.029). CONCLUSIONS: These results emphasize early surgery for better outcome in frontal lobe epilepsy. Post-operative EEG remained a good predictor for long-term outcome.

Status epilepticus related to pregnancy: Devising a protocol for use in the intensive care unit.

BACKGROUND: Status epilepticus (SE) related to pregnancy is rare and carries a significant risk to both the mother and the fetus. OBJECTIVES: We conducted this study to devise a protocol for the management of SE related to pregnancy in a cohort of female patients admitted with SE during pregnancy. MATERIALS AND METHODS: All women who developed SE related to pregnancy (gestation, labor, and puerperium) between January 2000 and December 2016 were included. Data was collected using a structured proforma. RESULTS: There were 17 women who had SE related to pregnancy, of whom 10 had refractory SE. The various causes of refractory SE were eclampsia (N = 2), posterior reversible encephalopathy syndrome (PRES) due to various causes other than eclampsia (N = 3), cortical venous thrombosis (CVT) [N = 3], subarachnoid hemorrhage (SAH) [N = 1], and N-methyl-D-aspartate (NMDA) receptor antibody-mediated encephalitis (N = 1). Six out of 10 women with refractory SE (60%) and five out of 10 fetuses (50%) had a good outcome. CONCLUSION: There is a dearth of literature with regards to SE related to pregnancy and little or no guidelines exist for its management. Awareness about the diverse etiologies other than eclampsia is important. A protocol-based approach to the diagnosis and management of SE is necessary to ensure best outcomes.

Arterial spin labeling hyperperfusion in Rasmussen's encephalitis: Is it due to focal brain inflammation or a postictal phenomenon?

BACKGROUND AND PURPOSE: The study evaluated the utility of arterial spin labeling (ASL) perfusion imaging in Rasmussen's encephalitis (RE). MATERIAL AND METHODS: The hospital electronic database was searched using the search words "encephalitis," "autoimmune encephalitis" and "Rasmussen's encephalitis" for the period of 1 Jan 2015 to 31 Jan 2017. Clinically diagnosed cases of RE for which epilepsy protocol magnetic resonance imaging (MRI) with perfusion imaging (ASL) performed on a 3T scanner were retrieved. The diagnosis of RE was based on Bien's criteria (Bien et al., 2005). We obtained patient's demographic details, clinical features, electrophysiological studies, and follow-up data from electronic hospital records. RESULTS: We included nine patients with RE of whom seven patients showed increased perfusion, and two patients decreased perfusion. Among these patients, MRI changes of gyral hyperintensity without volume loss corresponded to regional ASL hyperperfusion in six patients and ASL hypoperfusion in one patient. Two patients who showed ASL hypoperfusion had corresponding atrophy on MRI. Eight patients of RE had epilepsia partialis continua (EPC) or daily seizures, and one patient was seizure-free post-surgery. Five patients showed a concordance of ASL hyperperfusion with clinical ictal onset zone. Among the seven patients with ASL hyperperfusion, the finding was concordant (complete or partial) with the electroencephalogram (EEG) ictal onset zone in six patients and with interictal epileptiform discharges (IED) in seven patients. CONCLUSION: Increased perfusion in ASL of the involved brain parenchyma in RE is a common MRI finding and may be due to either active inflammation of the brain involved or a seizure-related finding.

Is 'burned-out hippocampus' syndrome a distinct electro-clinical variant of MTLE-HS syndrome?

AIM: To study the clinical, electrophysiological and imaging characteristics of patients with unilateral mesial temporal lobe epilepsy (MTLE) with contralateral ictal onset on scalp EEG, viz. 'burned-out hippocampus' syndrome (MTLE-BHS). METHODS: MTLE-BHS was defined as TLE with unilateral hippocampal sclerosis (HS) without any dual pathology on MRI and contralateral ictal onset on scalp EEG, unlike in classical hippocampal sclerosis (HS). Consecutive "MTLE-BHS" patients evaluated at our Centre for Comprehensive Epilepsy Care from January 2005 to July 2014 were studied. Twenty-five cases of classic MTLE-HS operated during the same period were also analyzed for comparison. RESULTS: Seventeen patients were diagnosed to have MTLE-BHS. Mean age of seizure onset was 9.5±7.7years and the mean duration of epilepsy was18.2±7.3years. Epigastric aura was more common in MTLE-HS and fear, secondary generalized seizures and temporal polar changes on MRI were more prevalent in the MTLE-BHS subgroup. In the latter group, five (29%) exhibited seizure semiology and 2 (12%) had interictal discharges discordant to the side of MTS. Eight (47%) patients in the MTLE-BHS sub-group had normal medial temporal volume on Scheltens scale. Eight patients among MTLE-BHS underwent surgery (4 following intracranial monitoring that localized to the side of HS) with Engel class I outcome at 1year follow-up in 6 and Engel class II outcome in 2. CONCLUSION: Attenuation of ipsilateral fast ictal rhythms on scalp EEG as well as neocortical changes are likely to be deterministic factors for MTLE-BHS as opposed to the severity of hippocampal atrophy. Considering good post-operative outcomes, intracranial monitoring for surgical selection is not mandatory in MTLE-BHS despite discordant semiology and ictal onset, in the presence of inter-ictal, functional imaging and neuropsychology data concordant to the side of HS.

Epilepsy with myoclonic absences: Electroclinical characteristics in a distinctive pediatric epilepsy phenotype.

PURPOSE: The purpose of this article was to study the electroclinical characteristics and seizure outcome of children with epilepsy with myoclonic absences (EMA). METHOD: In this descriptive cohort study, we reviewed clinical records of patients who met the criteria for EMA. Each patient's demographic data, birth/developmental history, seizure semiology/pattern, antiepileptic drugs (AED), clinical examination, video-electroencephalography (VEEG), and neuroimaging data were reviewed. Response to AED and change in seizure frequency/pattern on follow-up were noted. Responders were defined by seizure freedom/>50% reduction in seizure frequency on follow-up. RESULT: Twelve children were diagnosed with EMA between 2008 and 2013 [50% male; mean age of onset: 3.5years]. Main seizure types were the characteristic myoclonic absences (100%) and generalized tonic-clonic seizures (42%). Ictal correlate on VEEG was 3- to 3.5-Hz spike-and-wave discharges (82%) and fast recruiting bifrontal rhythm (25%). One patient had specific MRI abnormalities. Mean duration of follow-up was 23.9months. Seizure frequency had significantly improved on follow-up (p=0.005), and at last follow-up, nine patients were in the responder group: four seizure-free for at least 1year, two with >90%, and three with >50% reduction in seizure frequency. The number of AED reduced significantly between initial visit and last follow-up among responders. Two patients on follow-up developed different seizure patterns, with generalized tonic and complex partial seizures. One responder expired because of unprovoked generalized convulsive status epilepticus. CONCLUSION: This cohort, the largest from the Indian subcontinent on the rare syndrome of EMA, suggests mild heterogeneity in a seemingly homogenous electroclinical phenotype. Clinical semiology while unique may demonstrate focality and variable ictal patterns. Most patients respond to either valproate monotherapy or valproate-lamotrigine combination; however, the prognosis remains guarded. The seizures of a minority of patients remain drug-refractory and may evolve into tonic or complex partial seizures.

A hospital-based registry of Creutzfeldt-Jakob disease: Can neuroimaging serve as a surrogate biomarker?

AIM: This study addresses the role of neuroimaging in addition to the available clinical criteria for Creutzfeldt-Jakob disease (CJD) and its impact on its diagnosis in the absence of cerebrospinal fluid (CSF) biomarkers and tissue-based approaches. METHODS: From a tertiary referral center in the city of Trivandrum, Kerala, South India, patients with rapidly progressive dementia (RPD) who fulfilled the World Health Organization (WHO) 1998 diagnostic criteria for CJD were included in this study. Their electrophysiological-clinical-radiological data were retrospectively studied and the results were analyzed. The other biomarkers of CJD were not assessed in the study. RESULTS: Of the 96 patients with RPD, 41 patients were diagnosed as having a 'probable' and 'possible' CJD using the WHO 1998 diagnostic criteria between 2000 and 2013. While 92% patients satisfied the University of California, San Francisco (UCSF) 2007 and European magnetic resonance imaging (MRI)-CJD consortium criteria (2009), only 73% satisfied the MRI components of these criteria in addition to the more stringent, proposed UCSF MRI criteria (2011). The latter required the presence of diffusion weighted imaging abnormalities more than fluid attenuation inversion recovery abnormalities in the cortical and subcortical regions for the establishment of diagnosis on MRI of 'definite' (53.7%) and 'probable' CJD (19.5%). CONCLUSIONS: Significant heterogeneity exists in the presentation of CJD with only 48.8% patients simultaneously satisfying the MRI and electrophysiological criteria, suggesting that the diagnosis is impacted by these components in any of the currently prevalent criteria. With 27% of the cohort not meeting the radiological criteria, CSF and molecular biomarker assays may be reserved for MRI negative patients with suspected CJD and in atypical presentations.

Does F-18 FDG-PET substantially alter the surgical decision-making in drug-resistant partial epilepsy?

OBJECTIVE: There is a dearth of information on the critical utility of positron emission tomography (PET) in choosing candidates for epilepsy surgery especially in resource-poor countries where it is not freely available. This study aimed to critically analyze the utility of FDG-PET in the presurgical evaluation and surgical selection of patients with DRE based on the results obtained through its use in our comprehensive epilepsy program. METHODS: From 2008 to 2012, 117 patients with drug-resistant epilepsy underwent F-18 fluoro-deoxy-glucose (FDG) PET in our center. We utilized their data to audit the utility of PET in choosing/deferring patients for surgery. RESULTS: Of the 117 patients (age: 5-42years) who underwent F-18 FDG-PET, 64 had normal MRI, and 53 had lesions. Electroclinical data favored temporal ictal onset in 48 (41%), extratemporal in 60 (51.3%), and uncertain lobar localization in 9 (7.7%). The topography of PET hypometabolism was localizing in 53 (45.3%), lateralizing in 12 (10.3%), and 52 (44.4%) had either normal or discordant results. In the nonlesional group, focal hypometabolism was concordant to the area of ictal onset in 27 (41.5%) versus 38 (58.5%) in the lesional group (p=0.002). Greater concordance was noted in temporal lobe epilepsy (TLE) (78.0%) as compared to extratemporal epilepsy (ETPE) (28.6%) (p<0.001). Positron emission tomography was more concordant in patients with mesial temporal sclerosis than in those with other lesions (82.8% versus 50%) (p=0.033). Positron emission tomography helped in surgical decision-making in 68.8% of TLE and 23.3% of ETPE cases. Overall, 37 patients (31.6%) were directly selected for resective surgery based on PET results. CONCLUSIONS: Positron emission tomography, when utilized judiciously, remained an ancillary tool in the surgical selection of one-third of patients with drug-resistant partial epilepsy, although its utility as an independent tool is not very promising.