From Genetics to Genomics of Epilepsy
The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory te...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Neurology Research International |
| Online Access: | http://dx.doi.org/10.1155/2012/876234 |
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| author | Silvio Garofalo Marisa Cornacchione Alfonso Di Costanzo |
| author_facet | Silvio Garofalo Marisa Cornacchione Alfonso Di Costanzo |
| author_sort | Silvio Garofalo |
| collection | DOAJ |
| description | The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy. |
| format | Article |
| id | doaj-art-814465f0977d4c4dac65c76abe7c4b77 |
| institution | Kabale University |
| issn | 2090-1852 2090-1860 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neurology Research International |
| spelling | doaj-art-814465f0977d4c4dac65c76abe7c4b772025-02-03T01:23:01ZengWileyNeurology Research International2090-18522090-18602012-01-01201210.1155/2012/876234876234From Genetics to Genomics of EpilepsySilvio Garofalo0Marisa Cornacchione1Alfonso Di Costanzo2Dipartimento di Medicina e Scienze per la Salute (Me.S.pe.S.), Università del Molise, Via De Sanctis snc, 86100 Campobasso, ItalyDipartimento di Medicina e Scienze per la Salute (Me.S.pe.S.), Università del Molise, Via De Sanctis snc, 86100 Campobasso, ItalyDipartimento di Medicina e Scienze per la Salute (Me.S.pe.S.), Università del Molise, Via De Sanctis snc, 86100 Campobasso, ItalyThe introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy.http://dx.doi.org/10.1155/2012/876234 |
| spellingShingle | Silvio Garofalo Marisa Cornacchione Alfonso Di Costanzo From Genetics to Genomics of Epilepsy Neurology Research International |
| title | From Genetics to Genomics of Epilepsy |
| title_full | From Genetics to Genomics of Epilepsy |
| title_fullStr | From Genetics to Genomics of Epilepsy |
| title_full_unstemmed | From Genetics to Genomics of Epilepsy |
| title_short | From Genetics to Genomics of Epilepsy |
| title_sort | from genetics to genomics of epilepsy |
| url | http://dx.doi.org/10.1155/2012/876234 |
| work_keys_str_mv | AT silviogarofalo fromgeneticstogenomicsofepilepsy AT marisacornacchione fromgeneticstogenomicsofepilepsy AT alfonsodicostanzo fromgeneticstogenomicsofepilepsy |