Literature DB >> 23245548

Family history: a guide for neurologists in the age of genomic medicine.

Jodie M Vento1.   

Abstract

The field of neurogenetics has expanded dramatically over recent years. Neurogenetics has developed from a distinct subspecialty within neurology to something that transcends most of the common presenting conditions for neurologists. The importance of understanding the genetic contribution to conditions like epilepsy, neurodevelopmental disorders, and metabolic diseases has become very evident in neurology. In the era of personalized medicine and genomic testing, we have just begun to understand how genetic factors contribute to the development of disease, influence its natural history and severity, and determine its response to therapy. Genetic risk analysis and interpretation have become central components for the modern clinical assessment, and a comprehensive family history analysis is essential for neurologists. The benefits of collecting and updating a detailed pedigree are important for diagnostic guidance, risk counseling, and test interpretation. A review of genetic inheritance patterns, pedigree construction, and factors that influence disease presentation is outlined for the application in neurology practice.
Copyright © 2012 Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Year:  2012        PMID: 23245548     DOI: 10.1016/j.spen.2012.09.002

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  1 in total

1.  Pediatric Epilepsy Surgery: The Prognostic Value of Central Nervous System Comorbidities in Patients and their Families

Authors:  Krista J Qualmann; Christine G Spaeth; Melanie F Myers; Paul S Horn; Katherine Holland; Francesco T Mangano; Hansel M Greiner
Journal:  J Child Neurol       Date:  2017-01-06       Impact factor: 1.987

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.