Case of KCNQ2 mutation

Treatment Done by : Dr. Swati Gupta (Senior Pediatrician, BIMR Hospitals, Gwalior) & Team

Again a interesting case of KCNQ2 mutation ...This is a 3 month old baby with normal birth history, normal MRI, EEG and other routine investigations.. this baby had refractory kind of multifocal seizures since the age of 25 days...was on 3 antiepileptic drugs...seizure controlled after high dose of topiramate...I sent whole genome exome sequencing which came positive for KCNQ2 Deletion

This mutation is mostly associated with benign neonatal seizures and in 10 percent cases also with encephalopathy and bad prognosis...one thing which is common in both is sodium channel blockers work well in such pts. This pt. also responded very well to topiramate..