Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFObjective: We aim to provide a pictorial representation of the broad spectrum of intracranial hemorrhages associated with cerebral venous thrombosis (CVT), emphasizing atypical locations and rare intracerebral hemorrhage (ICH) types. We also hypothesize the pathophysiology leading to atypical locations of the ICH in CVT and the outcomes with anticoagulation therapy.
Background: ICH complicates about 40% of cases with CVT and is known to cause various types of ICH, including subarachnoid hemorrhage (SAH) and subdural hemorrhage (SDH).
Purpose: New onset status epilepticus (NOSE), a subtype of status epilepticus, is a neurological emergency associated with significant morbidity and mortality. This study aimed to analyze the phenotypic spectrum and outcomes of patients presenting with NOSE.
Methods: This prospective and retrospective descriptive study included patients presenting with NOSE over a 10-year period.
Background: The analysis of EEG demands expertise and keen observation to distinguish epileptiform discharges from benign epileptiform variants (BEVs), a frequent source of erroneous interpretation. The prevalence of BEVs varies based on geographical, racial, and ethnic characteristics. However, most data on BEVs originates from Western populations, and additional studies on different cohorts would enrich the existing literature.
View Article and Find Full Text PDFPurpose: Study assessed the role of MSI in predicting the post-operative seizure outcome.
Methods: This retrospective study included patients who underwent MEG and epilepsy surgery and had a minimum 6 months of postoperative follow-up. Concordance of MEG cluster with post-surgical resection cavity was classified as follows Class I) Concordant and region-specific, Class II) Concordant and region non-specific, Class III) Concordant lateralization only and Class IV) Discordant lateralization.
Acute toxic leukoencephalopathy and serotonin syndrome are rare neurological complications associated with various drugs and toxins, some of which overlap. However, the co-occurrence of these conditions is poorly documented. We present the case of a 14-year-old boy who suddenly developed altered consciousness and autonomic dysfunction after consuming excessive quantities of cough remedies containing dextromethorphan, chlorphenamine, dichlorobenzyl alcohol, and amylmetacreson.
View Article and Find Full Text PDFObjectives: This study aimed to localise the eloquent cortex and measure evoked field (EF) parameters using magnetoencephalography in patients with epilepsy and tumours near the eloquent cortex.
Methods: A total of 41 patients (26 with drug-refractory epilepsy and 15 with tumours), with a mean age of 33 years, were recruited. Visual evoked field (VEF), auditory evoked field (AEF), sensory evoked field (SSEF), and motor-evoked field (MEF) latencies, amplitudes, and localisation were compared with those of a control population.
Objective: One of the objectives of the Intersectoral Global Action Plan on epilepsy and other neurological disorders for 2022 to 2031 is to ensure at least 80% of people with epilepsy (PWE) will have access to appropriate, affordable, and safe antiseizure medications (ASMs) by 2031. However, ASM affordability is a significant issue in low- and middle-income countries, preventing PWE from accessing optimal treatment. This study aimed to determine the affordability of the newer (second and third generation) ASMs in resource-limited countries in Asia.
View Article and Find Full Text PDFThe study explores whether the epileptic networks associate with predetermined seizure onset zone (SOZ) identified from other modalities such as electroencephalogram/video electroencephalogram/structural MRI (EEG/VEEG/sMRI) and with the degree of resting-state functional MRI/positron emission tomography (RS-fMRI/PET) coupling. Here, we have analyzed the subgroup of patients who reported having a seizure on the day of scan as postictal cases and compared the findings with interictal cases (seizure-free interval). We performed independent component analysis (ICA) on RS-fMRI and 20 ICA were hand-labeled as large scale, noise, downstream, and epilepsy networks (Epinets) based on their profile in spatial, time series, and power spectrum domains.
View Article and Find Full Text PDFObjective: Eating epilepsy presents various imaging and electrophysiological features along with various seizure triggers. As such, network changes in eating epilepsy have not been comprehensively explored. This study was conducted to illustrate resting state network changes in eating epilepsy and to study the changes in network configurations during eating.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
December 2022
Background: High-level evidence for using steroids in epileptic encephalopathy (EE), other than West syndrome (WS), is lacking. This study investigated the efficacy and safety of pulse intravenous methylprednisolone (IVMP) in EE other than WS.
Methods: This is an open-label evaluator-blinded randomised controlled study.