Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12381
Title: Transition to adult life in the monogenic epilepsies.
Austin Authors: Scheffer, Ingrid E ;Dravet, Charlotte
Affiliation: The Florey Institute, Austin Health and Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia
Issue Date: 1-Aug-2014
Publication information: Epilepsia; 55 Suppl 3(): 12-5
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.
Gov't Doc #: 25209079
URI: http://ahro.austin.org.au/austinjspui/handle/1/12381
DOI: 10.1111/epi.12707
URL: https://pubmed.ncbi.nlm.nih.gov/25209079
Type: Journal Article
Subjects: Dravet syndrome
Monogenic epilepsies
Severe myoclonic epilepsy of infancy
Transfer
Transition
Adult
Child
Epilepsy.complications.genetics
Genetic Predisposition to Disease
Humans
Movement Disorders.complications.genetics
Mutation.genetics
Questionnaires
Transition to Adult Care
Appears in Collections:Journal articles

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