てんかんの分子生物学的研究の現況と展望

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  • Recent advance and perspectives in genetics of epilepsy

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The molecular pathogenesis of epilepsy had been long undiscovered though epilepsy was described even in ancient Greek age and has been well known as one of the commonest neurological disorders ever since. However, despite recent advances in molecular biology, the molecular mechanism of epilepsy remains a puzzle, assumingly due to its heterogeneous nature. Recently, genetic causes have been identified in certain epilepsy syndromes in which the inheritance is evident, such as progressive myoclonic epilepsy and rare familial idiopathic epilepsy syndromes. Interestingly, genetic abnormalities identified in such syndromes in which the phenotypes are similar to common idiopathic epilepsies were detected in genes encoding ion channels expressed in the brain. Thus such epilepsy syndromes are disorders of ion channels, i. e., “channelopathies”. The list of ion channel abnormalities that are associated with childhood epilepsy is expanding. Genetic identifier in epilepsy syndromes, except for severe myoclonic epilepsy in infancy, were familial epilepsy syndromes showing dominant inheritance with high penetrance while common idiopathic epilepsies do not show obvious inheritance. However, the similarities in symptomatology between such familial epilepsies and common idiopathic epilepsy may provide us with clues to the genetics of common idiopathic epilepsies. Further understanding of molecular mechanisms underlying epilepsy should open a new avenue to diagnosis and treatments for epilepsy based upon the pathomechanism.

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