Epilepsy genetics: clinical beginnings and social consequences
نویسندگان
چکیده
منابع مشابه
Epilepsy genetics revolutionizes clinical practice.
OBJECTIVES Epilepsy genetics has undergone a revolution in the past 19 years since the discovery of the first gene for epilepsy. The story of our increasing knowledge and how it impacts on patient care is presented with reference to recent discoveries. Understanding the significance of a genetic variant is challenging both in terms of molecular pathogenicity and in how this finding fits into th...
متن کاملThe clinical impact of epilepsy genetics.
An overemphasis on molecular genetic advances in epilepsy is in danger of missing the major contribution that clinical genetic studies make in predicting the likely benefit of molecular research efforts. Genetic epidemiology, twin, and family studies suggest that some individual epilepsy genes raise the risk for developing many different types of epilepsy but that specific combinations of these...
متن کاملIdiopathic generalised epilepsy of adult onset: clinical syndromes and genetics.
OBJECTIVE To study the clinical features and genetics of idiopathic generalised epilepsy (IGE) beginning in adult life. METHODS Consecutive patients with IGE, defined as generalised seizures with spike or polyspike and wave on EEG, were studied in the setting of a first seizure clinic where an early postictal EEG record is part of the protocol. Patients were divided into two groups: "classica...
متن کاملGenetics and epilepsy
The term "epilepsy" describes a heterogeneous group of disorders, most of them caused by interactions between several or even many genes and environmental factors. Much rarer are the genetic epilepsies that are due to single-gene mutations or defined structural chromosomal aberrations, such as microdeletions. The discovery of several of the genes underlying these rare genetic epilepsies has alr...
متن کاملEpilepsy and Genetics
Epilepsy is one of the most common neurological disorder, that affects approximately 50 million people in the world and 90% of epilepsy cases are seen in the less developed coun‐ tries[1,2].Epilepsy and seizures affect nearly 3 million Americans of all ages.Inheritance as etiology for epilepsy has been suspected for centuries. Despite the frequency of seizure dis‐ order and epilepsy little prog...
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ژورنال
عنوان ژورنال: QJM
سال: 2009
ISSN: 1460-2725,1460-2393
DOI: 10.1093/qjmed/hcp019