Genetic basis of epilepsy

Epilepsy is a heterogeneous group of neurological disorders characterized by epileptic seizures, most of themcaused by interactions between genes and environmental factors. Genetics seems to play a key role in etiology ofthis disease. There is a genetic basis in almost 50% of people with epilepsy. Early linkage studies havecharacterized several positions that may contain an epileptic-sensitive gene, and mutation analysis has identifieda number of mutations in both ion channels and focal genes in patients with idiopathic epilepsy. Extensivegenome studies on epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11.2-q13.3, and16p13.11-p13.2, some of which disrupt multiple genes, such as NRXN1, AUTS2, NLGN1, CNTNAP2,GRIN2A,PRRT2, NIPA2, and BMP5, implicated for neurodevelopmental disorders, including intellectualdisability and autism. Unfortunately, only a few common genetic variants have been associated with epilepsy.Studies of recent advanced sequencing have compiled some genetic mutations, most of which are found in nonfocalgene LGI1, PRRT2, EFHC1, PRICKLE, RBFOX1, and DEPDC5. Since epigenetics plays a role in neuronalfunction from embryogenesis and early brain development to tissue-specific gene expression, epigeneticregulation may also contribute to the mechanism of neurodevelopment through which a gene and theenvironment interacting with each other effect the development of epilepsy. This review give an overview in thisdirection and encourage the clinicians to start considering genetic testing as an important investigation along withelectroencephalogram and magnetic resonance imaging for better understanding and management of epilepsy intheir patients.

Keywords:

Epilepsy , Genetics , Neurodevelopment disorder , Neurological disorder