Molecular genetics of epilepsy disorders

Epilepsy is a chronic neurological disorder.  It is the most common neurological condition in children and third most common in adults after Alzheimer's and stroke.  The prvalence of epilepsy is estimated to be 8-10 per 1000 of the general population.  About 50% of epilepsy cases develop before the age of 20.

Perturbations in the normal pattern of neuronal activity, for example, due to abnormal brain development, abnormal neuronal wiring, an imbalance between excitatory and inhibitory cell signaling pathways or brain damage, can cause epilepsy.  Current research in the field of epilepsy focuses on the fundamental biological mechanisms which underlie the development of epilepsy, the causes of seizures and their different manifestations.  Specific genes, which substantially increase the probability that an epileptic disorder will occur, are being identified.  Considering current pace of epilepsy genetics research, it is hoped that over the next decade or so, we may have new classification of epileptic disorders which is based on the enhanced understanding of the basic biological processes involved. This knowledge should pave the way for new approaches for treatment and prevention of epilepsy. 

Among the more than 40 or so individual epileptic syndromes described in humans, about 10 are familial, and genetic components play a prominent role in their causation.  In this lab, we are studying certain common forms of epilepsies that have definite underlying genetic causes. These are called Idiopathic Generalized Epilepsy (IGE).  Main focus of work currently underway is a major subclass of IGE called juvenile myoclonic epilepsy, JME. We have ascertained a number of clinically well-characterized families manifesting this disorder.  These are currently being studied to probe molecular and cellular mechanisms involved. Our work involves a fusion of human molecular genetics, a range of molecular and cell biological techniques and whole genome-based methods to seek answers to questions.   These studies are being carriedout in collaboration with  Prof. P Satishchandra and Sanjib Sinha at NIMHANS, Bangalore;  Prof. K Radhakrishnan at SCTIMST, Thiruvananthapuram and additional epilepsy specialty clinics in the country.

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