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Molecular genetics of the epilepsies: present and future implications in clinical practice

J.M. Serratosa DOI: https://doi.org/10.33588/rn.2801.98349

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Volumen 28 | Number 01 | Nº of views of the article 4.050 | Nº of PDF downloads 228 | Article publication date 01/01/1999

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ABSTRACT

INTRODUCTION Recent advances in mapping and isolating human epilepsy genes are having an increasing importance in the field of epileptology. DEVELOPMENT and

CONCLUSIONS As the molecular bases of the genetic epilepsies are elucidated, more precise diagnoses and therapies are possible. Characterization of the genes responsible for several types of epilepsy will allow the clinician to increase diagnostic precision, offer more exact prognoses, and develop more efficient therapies. At the same time, the search for families with several affected members with some form of epilepsy has lead to the description of previously unnoticed epilepsies and epileptic syndromes. Both the precision in diagnosis and the description of new epilepsy syndromes should be of major importance for the development of the next version of the International Classification of Epilepsies and Epileptic Syndromes. Understanding the pathogenic mechanisms involved in different epilepsies may allow the rational development of ‘design’ antiepileptic drugs and, in the case of the poor-prognosis progressive myoclonus epilepsies, effective gene therapy treatments. Finally, the possibility of offering prenatal diagnosis and genetic counseling to families exposed to some forms of epilepsy may reduce their incidence in the future KeywordsClinical practice Epilepsy Genetics Mutations CategoriesEpilepsias y síndromes epilépticos

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Molecular genetics of the epilepsies: present and future implications in clinical practice