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Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017
Epilepsy is common neurological condition affecting 0.8-1% of the human population. Since 80% of patients are under 20 years of age, it is mainly a disease of the developmental period. The causes of epilepsy are heterogeneous, but the disease has always been considered a genetic disorder, which no l...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522928/ https://www.ncbi.nlm.nih.gov/pubmed/29291359 http://dx.doi.org/10.34763/devperiodmed.20172104.317327 |
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author | Hoffman-Zacharska, Dorota Górka-Skoczylas, Paulina |
author_facet | Hoffman-Zacharska, Dorota Górka-Skoczylas, Paulina |
author_sort | Hoffman-Zacharska, Dorota |
collection | PubMed |
description | Epilepsy is common neurological condition affecting 0.8-1% of the human population. Since 80% of patients are under 20 years of age, it is mainly a disease of the developmental period. The causes of epilepsy are heterogeneous, but the disease has always been considered a genetic disorder, which no longer doubted. Epilepsy genetics has undergone a revolution since the discovery of the first gene responsible for epilepsy. This is mainly because of introduction of the next generation sequencing as research and diagnostic tool, and transition from studies of pedigrees with epilepsy to the analysis of cases of epileptic encephalopathies. In a short time more than 50 early infantile epileptic encephalopathies were recognized due to the causative genes. Whole exome or targeted panel sequencing has been used as a diagnostic tool with a diagnostic yield of about 30-40%. The „genetic diagnosis” that is obtained makes it possible to introduce targeted treatment in an increasing number of cases. Since epileptic encephalopaties are often regarded as the model disease for epilepsy, these therapeutic strategies can provide treatment for patients with common epilepsies. |
format | Online Article Text |
id | pubmed-8522928 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Sciendo |
record_format | MEDLINE/PubMed |
spelling | pubmed-85229282021-11-19 Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 Hoffman-Zacharska, Dorota Górka-Skoczylas, Paulina Dev Period Med Special Contribution Epilepsy is common neurological condition affecting 0.8-1% of the human population. Since 80% of patients are under 20 years of age, it is mainly a disease of the developmental period. The causes of epilepsy are heterogeneous, but the disease has always been considered a genetic disorder, which no longer doubted. Epilepsy genetics has undergone a revolution since the discovery of the first gene responsible for epilepsy. This is mainly because of introduction of the next generation sequencing as research and diagnostic tool, and transition from studies of pedigrees with epilepsy to the analysis of cases of epileptic encephalopathies. In a short time more than 50 early infantile epileptic encephalopathies were recognized due to the causative genes. Whole exome or targeted panel sequencing has been used as a diagnostic tool with a diagnostic yield of about 30-40%. The „genetic diagnosis” that is obtained makes it possible to introduce targeted treatment in an increasing number of cases. Since epileptic encephalopaties are often regarded as the model disease for epilepsy, these therapeutic strategies can provide treatment for patients with common epilepsies. Sciendo 2018-01-02 /pmc/articles/PMC8522928/ /pubmed/29291359 http://dx.doi.org/10.34763/devperiodmed.20172104.317327 Text en © 2017 Dorota Hoffman-Zacharska, Paulina Górka-Skoczylas, published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Special Contribution Hoffman-Zacharska, Dorota Górka-Skoczylas, Paulina Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 |
title | Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 |
title_full | Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 |
title_fullStr | Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 |
title_full_unstemmed | Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 |
title_short | Trendy I Oczekiwania w Badaniach Podłoża Molekularnego Encefalopatii Padaczkowych - Stan Na Rok 2017 |
title_sort | trendy i oczekiwania w badaniach podłoża molekularnego encefalopatii padaczkowych - stan na rok 2017 |
topic | Special Contribution |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522928/ https://www.ncbi.nlm.nih.gov/pubmed/29291359 http://dx.doi.org/10.34763/devperiodmed.20172104.317327 |
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