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- W1999738897 abstract "Genetic influences as causal factors in the epilepsies continue to be vigorously investigated, and we review several important studies of genes reported in 2006. To date, mutations in ion channel and neuroreceptor component genes have been reported in the small fraction of cases with clear Mendelian inheritance. These findings confirm that the so-called channelopathies are generally inherited as monogenic disorders. At the same time, the literature in common epilepsies abounds with reports of associations and reports of nonreplication of those association studies, primarily with channel genes. These contradictory reports can mostly be explained by confounding factors unique to genetic studies. The methodology of genetic studies and their common biases and confounding factors are also explained in this review. Amid the controversy, steady progress is being made on the epilepsies of complex inheritance, which represent the most common idiopathic epilepsy. Recent discoveries show that genes influencing the developmental assembly of neural circuits and neuronal metabolism may play a more prominent role in the common epilepsies than genes affecting membrane excitability and synaptic transmission." @default.
- W1999738897 created "2016-06-24" @default.
- W1999738897 creator A5045585139 @default.
- W1999738897 creator A5073729732 @default.
- W1999738897 date "2007-07-01" @default.
- W1999738897 modified "2023-10-18" @default.
- W1999738897 title "The state of the art in the genetic analysis of the epilepsies" @default.
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- W1999738897 doi "https://doi.org/10.1007/s11910-007-0049-8" @default.
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