[How valuable are genetic studies in paediatric neurology?]. / Hasta dónde con los estudios genéticos en neurología pediátrica?
Rev Neurol
; 47 Suppl 1: S65-73, 2008.
Article
em Es
| MEDLINE
| ID: mdl-18767018
ABSTRACT
INTRODUCTION AND DEVELOPMENT Paediatric neurology is fully aware of the fact that important advances in genetics are being applied to the clinical and prenatal diagnoses of a wide range of diseases. The discovery of new genes related to a growing number of pathologies with neurological implications opens up new diagnostic approaches and provides information that is very useful in the process of detecting carriers and identifying pre-symptomatic individuals. More selective genetic techniques with higher resolutions are increasingly more commonly available in genetic laboratories, as is the possibility of sequencing and searching for specific mutations in certain genes; for some processes their application to clinical practice has made them the initial diagnostic approach. A precise clinical orientation and knowledge of their applications and limitations is essential, and requires an increasingly close relationship between clinicians and geneticists in order to design a tailored diagnostic protocol that offers a rational balance between technical availability, cost, time and relevance of the findings. CONCLUSIONS:
We discuss some of the current aspects and considerations about advances in specific neuropaediatric pathologies, within the group of neuromuscular disorders, mental retardation, autism spectrum disorders and epilepsy.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Limite:
Child
/
Humans
Idioma:
Es
Revista:
Rev Neurol
Ano de publicação:
2008
Tipo de documento:
Article