Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa J Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILAE task force (2022)...
February 19, 2024: Clinical Genetics