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KMID : 1160420210030010011
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Epilia: Epilepsy Commun
2021 Volume.3 No. 1 p.11 ~ p.15
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Genetics as a Cause of Epilepsy: From a Historical Concept to a Modern Etiologic Classification of Epilepsy
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Lim Byung-Chan
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Abstract
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Heredity was long considered as a principal cause of epilepsy, even before the advent of the molecular era with Watson and Crick’s discovery of the structure of DNA. However, recent progress in sequencing technology has resulted in the identification of numerous de novo mutations in epilepsy patients, which indicate that epilepsy was not inherited from their parents but newly occurred in the offspring. Thus, the term “genetic” should not be regarded as equivalent to “hereditary,” especially in clinical settings. Meanwhile, epileptologists before the molecular era observed an increased incidence of epilepsy among close relatives of an epilepsy patient. They also found that an organic cause in the brain was usually absent in such cases. The term “idiopathic,” which refers to an internal cause or morbus per se, was used to describe this hereditary predisposition. The term “idiopathic” was adopted in the modern etiologic classification of epilepsy, wherein idiopathic cases are regarded as having a purely genetic etiology, in contrast with cryptogenic or symptomatic cases. Although the International League Against Epilepsy recently proposed changing “idiopathic” to “genetic” in the etiologic classification, the precise genetic mechanism of idiopathic epilepsy has not yet been elucidated. Instead, de novo mutations in new epilepsy-related genes have come from the cryptogenic group.
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KEYWORD
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Epilepsy, Genetics, Cause, Idiopathic, Classification
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