Genetic Testing for Epilepsy
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Genetic Testing for Epilepsy
Epilepsy is a disorder characterized by unprovoked seizures. It is a heterogenous condition that encompasses many different types of seizures and that varies in age of onset and severity. The common epilepsies, also called idiopathic epilepsy, are thought to have a complex, multifactorial genetic basis. There are also numerous rare epileptic syndromes that occur in infancy or early childhood an...
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With the burgeoning array of molecular tests available in the epilepsies, the clinician needs to know which tests to order for each patient. Epileptic encephalopathies are the most important clinical group for genetic testing with an increasing number of distinctive epilepsy syndromes being recognized. Identification of the causative mutation affects treatment as well as prognostic and genetic ...
متن کاملGenetic testing in children with epilepsy.
Genetic testing is now available clinically for several epilepsies. Neurologists increasingly face decisions about diagnostic testing in affected patients and should carefully deliberate the ethical considerations associated with genetic testing. The merits of ordering a genetic test are largely based on the utility for guiding clinical care, providing a prognosis, estimating recurrence risk, a...
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The most common type of childhood-onset epilepsy syndrome is childhood absence epilepsy (CAE) with well-defined electro clinical features but unknown pathological basis. The incidence of absence epilepsy is about 2 and 8 out of every 100 000 children up to the age of 16, and the prevalence is 2 and 10% of children with any form of epilepsy. Children with CAE suffer from high rate of pretreatmen...
متن کاملWhat's at stake? Genetic information from the perspective of people with epilepsy and their family members.
Substantial progress has been made in identifying genes that raise risk for epilepsy, and genetic testing for some of these genes is increasingly being used in clinical practice. However, almost no empirical data are available from the perspective of people with epilepsy and their family members about the impact of genetic information and potential benefits and harms of genetic testing. To addr...
متن کاملDevelopments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist.
The contributions of genetic influences in both rare and common epilepsies are rapidly being elucidated, and neurologists routinely consider genetic testing in the workup of numerous epilepsy syndromes. Trends in patient attitudes and developments in clinical molecular diagnostics will increase interest in, and the availability of genetic tests for, genetic evaluations of epilepsies. We review ...
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