Genetics of Epilepsy

Abstract

Understanding the molecular biology of epilepsy is a challenge for modern science. Epilepsy results from alternations in fundamental mechanisms of brain and membrane function. Although an understanding of the mode of inheritance and the etiology of genetic epilepsy syndromes forms the basis for genetic counseling, the development of specific therapies will come from knowing the basic mechanisms of epilepsy. Defining the genes causing epilepsy requires an unambiguous definition of seizure phenotype, along with the stability of that trait, an unremitting clinical course, and an abundance of clinical material. This article reviews the task of defining the genetics of epilepsy and discusses genetic methodology, idiopathic generalized and localization-related partial epilepsies, neuronal migration disorders, progressive myoclonus epilepsies, molecular biology of epileptogenesis, and future research.

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy

“…Genetic epilepsy constitutes a proportion of all human epilepsy where genetic defects are the only or dominant factor leading to seizures and other neuropsychiatric comorbidities (Willmore and Ueda, 2002;Pandolfo, 2013). Copy number variations (CNVs) in specific loci of the chromosomes have been confirmed as susceptible to epilepsy (Striano and Minassian, 2020).…”

Prenatal Environmental Exposure and Neurodevelopmentally Important Gene Expression in Malformed Brain Tissue from Pediatric Intractable Epilepsy Patients

“…Lissencephaly is a severe developmental malformation which is highly associated with neurological deficits and epilepsy (Willmore and Ueda, 2002 (Crino et al, 2004).…”