Article
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clinical genetics - 1 Jun 2024
Majethia Purvi, Kaur Namanpreet, Mascarenhas Selinda, Rao Lakshmi Priya, Pande Shruti, Narayanan Dhanya Lakshmi, Bhat Vivekananda, Nayak Shalini S, Nair Karthik Vijay, Prasannakumar Adarsh Pooradan, Chaurasia Ankur, Hunakunti Bhagesh, Jadhav Nalesh, Farooqui Sheeba, Yeole Mayuri, Kothiwale Vishaka, Naik Rohit, Bhat Veena, Aroor Shrikiran, Lewis Leslie, Purkayastha Jayashree, Bhat Y Ramesh, Praveen B K, Yatheesha B L, Patil Siddaramappa J, Nampoothiri Sheela, Kamath Nutan, Siddiqui Shahyan, Bielas Stephanie, Girisha Katta Mohan, Sharma Suvasini, Shukla Anju
Abstract excerpt
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,...
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