title: Transition to adult life in the monogenic epilepsies.
abstract: There are many monogenic disorders associated with epilepsy that begin in childhood and persist into adult life. Each of these disorders raises specific issues for transition, in addition to common issues facing this group of patients as they move from pediatric to adult care. Such comorbidities include psychiatric and movement disorders. Epileptic encephalopathies may be caused by monogenic disorders, with Dravet syndrome being the best characterized. Although some patients have a relatively good adult outcome, others have persisting severe epilepsy complicated by autistic spectrum disorder and problems with gait. When reevaluating a patient as they transition to adult care, a thorough reconsideration of the genetic etiology of their epilepsy should be performed. This should be followed by genetic counseling for the patient and their family members.
authors.affiliation: The Florey Institute, Austin Health and Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Charlotte
authors.initials: C
authors.lastname: Dravet
mesh_terms: D000328:Adult; D002648:Child; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009069:Movement Disorders / Q000150:complications / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D011795:Surveys and Questionnaires; D060305:Transition to Adult Care
keywords: Dravet syndrome; Monogenic epilepsies; Severe myoclonic epilepsy of infancy; Transfer; Transition