The role of genetic testing in epilepsy diagnosis and management

被引：72

作者：

Weber, Yvonne G. ^{[1
]}

Biskup, Saskia ^{[2
]}

Helbig, Katherine L. ^{[3
]}

Von Spiczak, Sarah ^{[4
,5
]}

Lerche, Holger ^{[1
]}

机构：

[1] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, D-72072 Tubingen, Germany

[2] Ctr Genom & Transcript, CeGaT GmbH, Tubingen, Germany

[3] Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA

[4] Univ Kiel, Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany

[5] Northern German Epilepsy Ctr Children & Adolescen, Schwentinental Raisdorf, Germany

来源：

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | 2017年 / 17卷 / 08期

关键词：

Genetic counseling; next generation sequencing; microarray analysis; exome; genome; idiopathic; personalized medicine; precision medicine; metabolic epilepsies; genetic epilepsies; IDIOPATHIC GENERALIZED EPILEPSY; NEONATAL-INFANTILE SEIZURES; MIGRATING PARTIAL SEIZURES; GLUCOSE-TRANSPORTER GLUT1; SEVERE MYOCLONIC EPILEPSY; DOMINANT PARTIAL EPILEPSY; POTASSIUM CHANNEL GENE; OF-FUNCTION MUTATIONS; DE-NOVO MUTATIONS; MENTAL-RETARDATION;

D O I：

10.1080/14737159.2017.1335598

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Introduction: Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy.

引用

页码：739 / 750

页数：12

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