Abstract Background Epilepsy is a chronic neurological disorder associated with significant clinical and psychosocial burden. Antiseizure medications (ASMs) are the mainstay of epilepsy treatment; however, Indian data on prescribing patterns and quality of life (QoL) remain limited. This study aimed to evaluate drug utilization patterns in epilepsy and to assess health-related QoL using the Quality of Life in Epilepsy Inventory-10-P (QOLIE-10-P) scale. Methods A prospective cross-sectional study was conducted from October 2024 to January 2025 at a tertiary care hospital in Gujarat, India. Adult patients (≥ 18 years) diagnosed with epilepsy as per the International League Against Epilepsy criteria were enrolled. Demographic and clinical data were collected, prescribed daily doses were compared with the World Health Organization (WHO)-defined daily doses, and QoL was assessed using the QOLIE-10-P questionnaire. Results Among 150 patients, males predominated (66.67%), and most were aged 31 to 60 years. Focal epilepsy was the most common type (46.67%). A total of 253 ASMs were prescribed, with levetiracetam (30.31%) and clobazam (25.59%) being most frequently used. Monotherapy (114 ASMs) was prescribed to 83 (55.33%) patients, whereas dual therapy (87 ASMs) and triple therapy (52 ASMs) were used in 45 (30%) and 22 (14.66%) patients, respectively, with 46.67% of overall patients had seizure-free period. Prescriptions showed adherence to essential medicine guidelines, with 76.37% aligned with the National List of Essential Medicines and 50.78% with the WHO Essential Medicines List. Most ASMs were prescribed within WHO-defined dose ranges. The mean QOLIE-10-P score (33.5 ± 1.19) indicated reduced QoL, with significant differences based on residence and education level. Psychological and sociodemographic factors, particularly depression, anxiety, education, and residence, were significant predictors of QoL, whereas clinical epilepsy-related factors showed limited influence. Conclusion Rational prescribing with increasing use of newer ASMs was observed. Individualized, patient-centered care incorporating psychosocial support is essential to improve QoL and long-term outcomes in epilepsy.
Varsha J. Galani, Shikha Vaid, Bhumika Rana et al.· International Journal of Epi...· 0 citations
Parkinsons disease (PD) arises through disruption of multiple interconnected cellular processes, but the genetic contributions to these processes may differ across ancestries. We investigated functional convergence among genes harboring pathogenic or likely pathogenic (P/LP) variants and variants of uncertain significance (VUS) in a multicenter Indian cohort recruited through the Genetics of Parkinsons Disease in India Young Onset Parkinsons Disease project (GOPI YOPD). The cohort included 668 participants (463 males 69.3%) with a mean age at motor onset of 39.4+/-8.8 years. P/LP variants and VUS identified through previously reported whole-exome or whole genome sequencing were retained as separate evidential categories. The P/LP-associated gene set comprised 11 unique genes and the VUS associated set comprised 40 unique genes. Separate STRING functional-enrichment analyses evaluated Gene Ontology Biological Process, Molecular Function and Cellular Component terms, KEGG pathways, WikiPathways and STRING local network clusters. Terms meeting a Benjamini Hochberg false discovery rate threshold of <0.05 were organized into eight non-mutually-exclusive ontology/pathway categories. Gene to pathway mappings were subsequently projected to individual participants to estimate pathway representation and examine clinical associations. At least one reportable P/LP variant or VUS was identified in 336/668 participants (50.3%): 35 had a P/LP variant alone, 282 had VUS alone and 19 had a P/LP variant together with VUS in one or more additional genes. The most frequently represented categories were mitochondrial organization (247/336, 73.5%), autophagy related processes (228/336, 67.9%) and regulation of synaptic vesicle transport (201/336, 59.8%). PRKN was the most frequent P/LP-associated gene, occurring in 29/54 P/LP carriers, followed by PLA2G6 and PINK1. Lysosomal transport was represented exclusively by VUS-associated genes, particularly GBA1, VPS13C and LRRK2. Among P/LP carriers, additional VUS in distinct genes were not associated with age at onset (P = 0.81) or family history (52.6% versus 31.4%; P = 0.15). No pathway phenotype association remained significant after correction for multiple testing. Genetic findings in this Indian cohort converged across an interconnected mitochondrial autophagic lysosomal vesicular network, with different contributions from P/LP-associated and VUS associated gene sets. This study provides the first pathway resolved South Asian genetic profile and a framework for comparative studies across populations.
R. Menon, A. I. Khan, D. Elangovan et al.· medRxiv· 0 citations
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