Genetic testing for paediatric neurological disorders

Research output: Contribution to journalArticlepeer-review


Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling.

Original languageEnglish
Pages (from-to)1113-1126
Number of pages14
JournalThe Lancet Neurology
Issue number12
Publication statusPublished - Dec 2008

ASJC Scopus subject areas

  • Clinical Neurology


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