| Autor: |
M, Tacke, B A, Neubauer, L, Gerstl, T, Roser, J, Rémi, I, Borggraefe |
| Jazyk: |
němčina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Der Nervenarzt. 88(12) |
| ISSN: |
1433-0407 |
| Popis: |
Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance.This publication presents the arguments in favour of a broad use of genetic investigations for children with epilepsies. Several diseases where a genetic diagnosis does in fact have direct therapeutic consequences are mentioned. In addition, the indirect impact of an established etiology, encompassing the avoidance of unnecessary diagnostic measures, possibility of genetic counselling, and the easing of the psychologic burden for the caregivers, should not be underestimated.The arguments in favour of broad genetic diagnostics prevail notwithstanding the lack of relevant new developments regarding the therapy. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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