LAUSR

Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely unknown. Numerous factors, including genetic mutations, brain damage, and environmental insults, have been implicated in the etiology of epilepsy, but the cause for individual epilepsy patients is often unknown. Research on inherited forms of epilepsy has identified mutations in genes encoding ion channels or neurotransmitter receptors. Family-based studies of inherited forms of epilepsy have previously identified mutations in genes encoding ion channels and neurotransmitter receptors. With a deepening understanding of the underlying cellular pathways, researchers have identified epilepsy candidate genes that function in synaptic vesicle trafficking, chromatin remodeling, transcription, and mammalian target of rapamycin (mTOR) signaling. More recently, genes involved in synaptic vesicle transport, chromatin remodeling, and transcription, as well as the mTOR signaling pathway, have also been implicated in inherited forms of the disorder. In addition, recent advances in DNA sequencing and genomic technologies have identified chromosomal copy number variants and epigenetic modifications as possible contributing factors in inherited epilepsy. In this review, we focus on the established and potential contributions of genes, chromosomal abnormalities, and epigenetic modifications to the development of epilepsy.