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- W2124795891 abstract "Short Description In the past 2 decades, significant insights have been gained into the role that genes play in several neurological disorders including epilepsy (Helbig et al. 2008; Deprez et al. 2009). The impact of currently available genetic information is relatively limited due to the small percentage of patients in whommutations are identified. The primary consequence of the identification of mutations in genes associated with a specific disorder is the implementation of genetic testing into the routine diagnostic workup (> Fig. 99-1). Although the diagnosis is made on clinical grounds, molecular testing might potentially confirm the diagnosis. The absence of mutations in a gene-disease nevertheless does not exclude the diagnosis since both genetic and phenotypic heterogeneity are possible: mutations in the same gene might cause different phenotypes and on the contrary similar phenotypes might be associated with mutations of different genes." @default.
- W2124795891 created "2016-06-24" @default.
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- W2124795891 date "2012-02-08" @default.
- W2124795891 modified "2023-09-27" @default.
- W2124795891 title "Molecular Genetic Tests for Epilepsies" @default.
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- W2124795891 doi "https://doi.org/10.1007/springerreference_188208" @default.
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