GENETICS OF EPILEPSY

Genetics is a huge and growing area across human biology, medicine and science, providing information about basic processes from birth to death, from development to degeneration, and in even revealing enough about disease biology to lead to new therapies or better use of existing treatments because gene activity underlines all biological process (Sisodiya, 1881; Vadlamudi et al., 2014). 

Epilepsy is defined as one unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years (Fisher et al. 2014). At a conservative estimate, 50 million people worldwide have epilepsy with an annual incidence ranging from 20 to 70 cases per 100,000 (Sørensen & Kokaia, 2013). Over 85% of epilepsy cases are found in low middle income countries.

2/3 of all epilepsies are genetic, 1%: familial:Single gene and 99%: sporadic: polygenic (WHO, 2010) and 76 genes in total has been identified with epilepsy (ILEA 2017). Variants in these genes are either inherited or de novo (Mikko, 2016). 

This seminar report discusses the epidemiology, the management, the diagnosis and the genetics of Epilepsy.

Literatures were reviewed mainly through Pubmed (Public Medline) searched with the terms “genetics of epilepsy”, “epilepsy”, “genetics and epilepsy”, “genetics” etc   as well as from Google scholar, Devil finder, websites of epilepsy organization, NCBI, hard copies of journal pages, conference paper on genetics and epilepsy.

In conclusion, Genetics has transformed clinical practice in epilepsy and the reward of the thorough understanding of the genetics of epilepsy has provided useful information to epileptic patients and their family members, individuals, parents, doctors, psychologist, and the general public at large and this has led to breakthrough in terms of management, treatment, diagnosis, control and solutions frequently asked questions on epilepsy. Hence, Participation in research studies on genetic mechanisms of epilepsy should be encouraged as it is critical for improving our knowledge and ability to diagnose disease, predict who will or will not develop epilepsy, and develop better treatments.