Current Concepts in the Management of Idiopathic Generalized Epilepsies.

Idiopathic generalized epilepsies (IGEs) are a group of epilepsies characterized by an underlying genetic predisposition and a good response to antiseizure medicines (ASMs) in the majority of the patients. Of the various broad-spectrum ASMs, valproate is the most effective medicine for the control of seizures in IGEs. However, with the availability of many newer ASMs and evidence showing the high teratogenic potential of valproate, the choice of ASMs for IGEs has become increasingly difficult, especially in women of the child-bearing age group.

MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy.

Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting with neuropathy, leucoencephalopathy and subclinical hepatic dysfunction with detailed clinical and imaging description.

Adjunctive Brivaracetam in Indian Patients with Uncontrolled Focal Epilepsy: Results from a Pooled Analysis of Two Double-Blind, Randomized, Placebo-Controlled Trials.

Background: Nearly one-third of patients don't achieve seizure control with existing antiepileptic drugs. Brivaracetam (BRV) is a new member of the racetam class of drug, designed to selectively target SV2A, with binding affinity 15- to 30-fold greater than that of levetiracetam.

Objective: This pooled analysis reports efficacy and tolerability data of adjunct BRV (50, 100, and 200 mg/day) compared with placebo in Indian patients with uncontrolled focal epilepsy.

Clinical, neuroimaging and therapeutic response in AQP4-positive NMO patients from India.

Background: Neuromyelitis Optica (NMO) is an autoimmune astrocytopathic disorder due to AQP4 antibodies.

Objectives: To analyse clinical, neuroimaging features in NMO patients and assess the efficacy of various therapeutics.

Methods: AQP4+ve NMO patients were diagnosed based on consensus diagnostic criteria.

Machine learning identifies "rsfMRI epilepsy networks" in temporal lobe epilepsy.

Objectives: Experimental models have provided compelling evidence for the existence of neural networks in temporal lobe epilepsy (TLE). To identify and validate the possible existence of resting-state "epilepsy networks," we used machine learning methods on resting-state functional magnetic resonance imaging (rsfMRI) data from 42 individuals with TLE.

Methods: Probabilistic independent component analysis (PICA) was applied to rsfMRI data from 132 subjects (42 TLE patients + 90 healthy controls) and 88 independent components (ICs) were obtained following standard procedures.

A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23.

Hot water epilepsy (HWE) is a rare form of sensory epilepsy where seizures are precipitated by a stimulus of contact with hot water. While earlier studies have suggested causal role of genes for HWE, specific underpinnings are beginning to be explored only recently. We carried out a whole genome-based linkage analysis in a family where most of its members affected by HWE and found evidence of a previously unknown locus at chromosome 9p24.

Sub-lobar dysplasia - A comprehensive evaluation with neuroimaging, magnetoencephalography and histopathology.

Sublobar dysplasia, a rare cortical malformation has been defined in only 8 patients to date. It was identified on the basis of histopathological features and MRI findings. We report a right temporal sublobar dysplasia, with detailed evaluation including neuroimaging, magnetoencephalography and histopathology to further characterize the pathology.

Scalp high frequency oscillations (HFOs) in absence epilepsy: An independent component analysis (ICA) based approach.

Background: High frequency oscillations (HFOs) have provided a new insight in understanding ictogenesis and seizure localization. In absence seizures, HFOs were predominantly localized in the medial prefrontal cortex (MPFC) in MEG studies.

Methods: We studied HFOs (80-250 Hz) in scalp EEGs in patients with absence epilepsy, and evaluated their frequency bandwidth and spatial-temporal distribution.

Co-morbidities and outcome of childhood psychogenic non-epileptic seizures--an observational study.

Purpose: To assess the psychiatric diagnoses and outcome in children with psychogenic non-epileptic seizures (PNES).

Methodology: This hospital based observational study was performed on 44 children aged <16 years, who suspected to have psychogenic non-epileptic seizures based on video-EEG, from August 2005 to August 2012. The parameters noted were the psychiatric diagnosis, co-morbidities, management assessment and interventions (pharmacological and psychosocial), number and duration of follow-up visits, symptoms at follow-up, functioning as reflected by involvement in the social and scholastic work.

Surgery for drug-resistant focal epilepsy.

During the colloquium on drug-resistant epilepsy (DRE) at National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore on August 16-18, 2013, a number of presentations were made on the surgically remediable lesional epilepsy syndromes, presurgical evaluation, surgical techniques, neuropathology of drug resistance focal epilepsy and surgical outcome. This pictorial essay with the illustrative case examples provides an overview of the various surgical techniques for the management of drug-resistant focal epilepsy.

Children with psychogenic non-epileptic seizures (PNES): a detailed semiologic analysis and modified new classification.

Purpose: To analyze children with psychogenic non epileptic seizures and propose a modified new classification.

Methods: This retrospective analysis included 56 children aged <18 years (M:F=26:30; mean age: 12.3±4.

Utility of molecular and serodiagnostic tools in cerebral toxoplasmosis with and without tuberculous meningitis in AIDS patients: A study from South India.

Background: Antemortem diagnosis of cerebral toxoplasmosis, the second most common opportunistic infection (OI) in HIV-infected individuals in developing countries is a challenge.

Materials And Methods: Toxoplasma gondii (T.gondii) -specific serology and nested polymerase chain reaction (nPCR) were evaluated in sera and ventricular/lumbar cerebrospinal fluid (CSF) of 22 autopsy confirmed cases of cerebral toxoplasmosis with HIV and 17 controls.

Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28.

Hot water epilepsy is a reflex or sensory epilepsy in which seizures are triggered by the stimulus of bathing in hot water. Although there is evidence of a genetic basis to its etiology, no gene associated with this disorder has so far been found. In order to identify the genetic locus involved in the pathophysiology of hot water epilepsy, we performed a genome-wide linkage analysis in a four-generation family manifesting the disorder in an autosomal dominant manner.

A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3.

Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy wherein seizures are precipitated by an unusual stimulus, the contact of hot water over the head and body. Genome-wide linkage analysis of a large family with ten affected members, provided evidence of linkage (Z (max) = 3.17 at theta = 0 for D10S412) to chromosome 10q21.

NMDA receptor activation by HIV-Tat protein is clade dependent.

In countries infected with HIV clade B, some patients develop a rapidly progressive dementia that if untreated results in death. In regions of the world infected with HIV clade C, only milder forms of cognitive impairment have been recognized. HIV-infected macrophages are the principal mediators of dementia.

Elemental mercury poisoning probably causes cortical myoclonus.

Mercury toxicity causes postural tremors, commonly referred to as "mercurial tremors," and cerebellar dysfunction. A 23-year woman, 2 years after injecting herself with elemental mercury developed disabling generalized myoclonus and ataxia. Electrophysiological studies confirmed the myoclonus was probably of cortical origin.