Publications by authors named "Soumya V Chandrasekharan"
Purpose: Drug-resistant epilepsy is seen in patients with inborn errors of metabolism and metabolic dysfunction in neurons is crucial to brain disorders associated with psychomotor impairment. Diagnostic rates of metabolic causes of developmental and epileptic encephalopathy (DEE) using next generation sequencing have been rarely studied in literature.
Methods: A prospective hospital study was carried out in 384 children with DEE, who underwent genetic testing.
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.
Article Synopsis
- The text discusses Temtamy syndrome, a rare disorder linked to open reading frame variants that lead to symptoms like intellectual disability and seizures, particularly involving the development of the corpus callosum.
- It presents a case study of the first Indian child diagnosed with developmental and epileptic encephalopathy (DEE) characterized by unique focal onset reflex seizures.
- Whole exome sequencing revealed two significant genetic variants in the child, contributing to our understanding of this rare syndrome and expanding its representation within the Indian population.
Background: Prediction of outcome of West syndrome (WS) in relation to etiology and electrophysiology remain pertinent challenges.
Objective: This study aimed to compare electro-clinical and imaging characteristics between WS of "unknown-etiology"; "symptomatic"WS; to gauge the evolution and impact of electroencephalographic (EEG) patterns on seizure outcomes.
Materials And Methods: Electro-clinico-radiological data of 76 children with WS who were followed up for atleast 1 year was collected for reviewing clinical, therapeutic and EEG profiles (sub-typed as typical and modified hypsarrhythmia [HA]).
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.
View Article and Find Full Text PDFTRIM 32-related Limb Girdle Muscular Dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the TRIM32 gene confirming the diagnosis of LGMD R8.
View Article and Find Full Text PDFPurpose: Psychiatric disease is the most common co-morbidity seen in persons with epilepsy (PWE), often secondary to psychosocial disturbances due to poor adaptation to the disease. Optimizing epilepsy treatment by targeting both seizure control and addressing psychological issues go a long way in improving psychological outcome among PWE. This study aims to assess the psychological status among PWE using validated questionnaires and to assess the effect of viewing their own seizures on their psychological milieu post-viewing.
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