Genetic Testing in Epilepsy: What Should you be Doing?-Reference-Cited by-同舟云学术

Genetic Testing in Epilepsy: What Should you be Doing?

Published:2011-07 Issue:4 Volume:11 Page:107-111
ISSN:1535-7597
Container-title:Epilepsy Currents
language:en
Short-container-title:Epilepsy Curr

Author:

Scheffer Ingrid E.¹

Affiliation:

1. Professor of Paediatric Neurology, Departments of Medicine and Paediatrics, The University of Melbourne, Austin and Royal Children's Hospital, Senior Principal Research Fellow, Florey Neuroscience Institutes, and Director of Paediatrics, Austin Health, Melbourne, Australia

Abstract

With the burgeoning array of molecular tests available in the epilepsies, the clinician needs to know which tests to order for each patient. Epileptic encephalopathies are the most important clinical group for genetic testing with an increasing number of distinctive epilepsy syndromes being recognized. Identification of the causative mutation affects treatment as well as prognostic and genetic counseling.

Publisher

SAGE Publications

Subject

Clinical Neurology

Link

http://journals.sagepub.com/doi/pdf/10.5698/1535-7511-11.4.107

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4. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

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