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[Current prospects of genetics in epilepsy diagnostics--when and what?].

作者信息

Uusimaa Johanna, Gaily Eija, Ignatius Jaakko, Lehesjoki Anna-Elina

机构信息

lasten ja nuorten klinikka, lastenneurologian yksikkö ja Kliinisen tutkimuksen keskus, Oulun yliopistollinen sairaala.

出版信息

Duodecim. 2009;125(22):2521-30.

Abstract

Genetic factors have been estimated to affect the development of epilepsy in as many as 40% of the patients. Several genes have been identified underlying rare epileptic syndromes. Most epilepsies are most likely caused by a combined effect of several genes and environmental factors, and the genetic background of these diseases remains to be largely unknown. In practice, DNA diagnostics is possible only in a small proportion of epilepsy patients. In some cases gene testing is, however, an essential tool in diagnosis, e.g. facilitating the planning of pharmacological therapy for the patient's epilepsy.

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