title: Genetic forms of epilepsies and other paroxysmal disorders.
abstract: Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders, such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including tuberous sclerosis complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of single-gene causes or susceptibility factors associated with several epilepsy syndromes, including the early-onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look toward the future of epilepsy genetics.
authors.affiliation: Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Heather E
authors.initials: HE
authors.lastname: Olson
authors.affiliation: Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
authors.affiliation: Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
mesh_terms: D000818:Animals; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D010641:Phenotype