Genetic evaluation and counseling for epilepsy.
Summary of "Genetic evaluation and counseling for epilepsy."
The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of both known and unknown cause. Simultaneously, advances in molecular technology foreshadow additional discoveries in epilepsy etiology, implying a greater role than ever before for genetics in the epilepsy clinic. Genetic testing can be valuable not only for diagnosis but also for guiding treatment and for informing reproductive choices. In this Review, we outline the principles of genetic evaluation and counseling, and describe how to interpret genetic test results for epilepsy in the following five common clinical scenarios: Dravet syndrome, infantile spasms, epilepsy with cortical malformation, epilepsy with mental retardation, and idiopathic epilepsy syndromes. We differentiate clinical situations in which genetic testing is of high and low utility, and predict future areas for the application of genetics in epilepsy practice.
Affiliation
King's College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK.
Journal Details
This article was published in the following journal.
Name: Nature reviews. Neurology
ISSN: 1759-4766
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20647993
- DOI: http://dx.doi.org/10.1038/nrneurol.2010.92
Medical and Biotech [MESH] Definitions
Directive Counseling
Counseling during which a professional plays an active role in a client's or patient's decision making by offering advice, guidance, and/or recommendations.
Recombination, Genetic
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Evaluation Studies As Topic
Studies determining the effectiveness or value of processes, personnel, and equipment, or the material on conducting such studies. For drugs and devices, CLINICAL TRIALS AS TOPIC; DRUG EVALUATION; and DRUG EVALUATION, PRECLINICAL are available.
Myoclonic Epilepsy, Juvenile
A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Genetics, Population
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
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