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J Med Genet ; 50(5): 271-9, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23468209

RESUMO

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been a steady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent of new screening technologies promises to exponentially expand both knowledge and clinical utility. To maximise the value of this new genetic insight we need to rapidly extrapolate genetic findings to inform patients of their diagnosis, prognosis, recurrence risk and the clinical management options available for their specific genetic condition. Comprehensive, highly specific and sensitive genetic test results improve the management of patients by neurologists and clinical geneticists. Here we discuss the latest developments in clinical genetic testing for epilepsy and describe new molecular genetics platforms that will transform both genetic screening and novel gene discovery.


Assuntos
Epilepsia/genética , Predisposição Genética para Doença/genética , Testes Genéticos/tendências , Variação Genética , Biologia Molecular/tendências , Variações do Número de Cópias de DNA , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Biologia Molecular/métodos , Herança Multifatorial/genética , Mutação/genética
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